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Gene FANCL
Variant Q99H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCL Q99H does not lie within any known functional domains of the Fancl protein (UniProt.org). Q99H has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
Associated Drug Resistance
Category Variants Paths

FANCL mutant FANCL Q99H

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Transcript NM_018062.4
gDNA chr2:g.58222019T>A
cDNA c.297A>T
Protein p.Q99H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532941 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_017004414.2 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_005264395 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532942.4 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
NM_018062.3 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532940.4 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532939 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_017004415 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_005264395.5 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532942.3 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
NM_018062.4 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
NM_018062 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532942 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532939.4 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_005264395.4 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_017004415.2 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_047444852.1 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
NM_001114636.1 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_017004414 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
NM_001114636.1 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532940.3 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532940 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
NM_001114636 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532939.3 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
XM_011532941.2 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
NM_001410792.1 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38
NM_001374615.1 chr2:g.58222019T>A c.297A>T p.Q99H RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References