Annotation Detail
Information
- Associated Genes
- FOXP1
- Associated Variants
-
ENSG00000285708 p.Arg514Cys (p.R514C), FOXP1 c.1531-487C>T
(
ENST00000318789.11,
ENST00000468577.6,
ENST00000475937.6,
ENST00000484350.5,
ENST00000491238.8,
ENST00000493089.7,
ENST00000497355.7,
ENST00000498215.7,
ENST00000614176.5,
ENST00000648380.1,
ENST00000648426.1,
ENST00000648710.2,
ENST00000648718.1,
ENST00000648748.3,
ENST00000648794.2,
ENST00000649528.3,
ENST00000649592.1,
ENST00000649596.1,
ENST00000649610.2,
ENST00000649631.1,
ENST00000649695.3,
ENST00000650068.2,
ENST00000650188.1,
ENST00000650387.1 )
ENSG00000285708 p.Arg514Cys (p.R514C), FOXP1 c.1531-487C>T ( ENST00000318789.11, ENST00000468577.6, ENST00000475937.6, ENST00000484350.5, ENST00000491238.8, ENST00000493089.7, ENST00000497355.7, ENST00000498215.7, ENST00000614176.5, ENST00000648380.1, ENST00000648426.1, ENST00000648710.2, ENST00000648718.1, ENST00000648748.3, ENST00000648794.2, ENST00000649528.3, ENST00000649592.1, ENST00000649596.1, ENST00000649610.2, ENST00000649631.1, ENST00000649695.3, ENST00000650068.2, ENST00000650188.1, ENST00000650387.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) AND not provided
- ClinVar Allele ID
- 213912
- ClinVar RefSeq Alternation Syntax
- NR_146143.3:n.2053C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349340.3:c.1540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001244814.3:c.1540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349338.3:c.1540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001244810.2:c.1531-487C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349344.3:c.1237C>T
- ClinVar RefSeq Alternation Syntax
- NM_001244808.3:c.1537C>T
- ClinVar RefSeq Alternation Syntax
- NM_001244813.3:c.1240C>T
- ClinVar RefSeq Alternation Syntax
- NM_001244812.3:c.1312C>T
- ClinVar RefSeq Alternation Syntax
- NM_001244815.2:c.1240C>T
- ClinVar RefSeq Alternation Syntax
- NM_001244816.2:c.1540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349337.2:c.1237C>T
- ClinVar RefSeq Alternation Syntax
- NM_001370548.1:c.1237C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349342.3:c.1240C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349343.3:c.1237C>T
- ClinVar RefSeq Alternation Syntax
- NM_032682.6:c.1540C>T
- ClinVar RefSeq Alternation Syntax
- NM_001349341.3:c.1537C>T
- ClinVar RefSeq Alternation Syntax
- NR_146142.3:n.2056C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-18
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001267938
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs