Annotation Detail

Information
Associated Genes
FOXP1
Associated Variants
ENSG00000285708 p.Thr411= (p.T411=), FOXP1 p.Thr411= (p.T411=) ( 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.Thr411= (p.T411=), FOXP1 p.Thr411= (p.T411=) ( 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 specified
Source Database
ClinVar
Description
NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=) AND not specified
ClinVar Allele ID
291553
ClinVar RefSeq Alternation Syntax
NM_001244813.3:c.933C>T
ClinVar RefSeq Alternation Syntax
NM_001244816.2:c.1233C>T
ClinVar RefSeq Alternation Syntax
NM_032682.6:c.1233C>T
ClinVar RefSeq Alternation Syntax
NM_001244808.3:c.1233C>T
ClinVar RefSeq Alternation Syntax
NM_001349344.3:c.930C>T
ClinVar RefSeq Alternation Syntax
NM_001349342.3:c.933C>T
ClinVar RefSeq Alternation Syntax
NM_001370548.1:c.933C>T
ClinVar RefSeq Alternation Syntax
NM_001244810.2:c.1233C>T
ClinVar RefSeq Alternation Syntax
NM_001349337.2:c.930C>T
ClinVar RefSeq Alternation Syntax
NR_146142.3:n.1749C>T
ClinVar RefSeq Alternation Syntax
NM_001349338.3:c.1233C>T
ClinVar RefSeq Alternation Syntax
NM_001349343.3:c.930C>T
ClinVar RefSeq Alternation Syntax
NR_146143.3:n.1746C>T
ClinVar RefSeq Alternation Syntax
NM_001244812.3:c.1005C>T
ClinVar RefSeq Alternation Syntax
NM_001244815.2:c.933C>T
ClinVar RefSeq Alternation Syntax
NM_001349341.3:c.1230C>T
ClinVar RefSeq Alternation Syntax
NM_001244814.3:c.1233C>T
ClinVar RefSeq Alternation Syntax
NM_001349340.3:c.1233C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2017-09-25
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001821050
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs