Annotation Detail
Information
- Associated Genes
- TCF4
- Associated Variants
-
TCF4 p.Arg678Gln (p.R678Q)
(
ENST00000356073.8,
ENST00000568673.5,
ENST00000457482.7,
ENST00000568740.5,
ENST00000544241.6,
ENST00000537856.7,
ENST00000543082.5,
ENST00000566286.5,
ENST00000567880.5,
ENST00000566279.5,
ENST00000564403.6,
ENST00000561992.5,
ENST00000564228.5,
ENST00000537578.5,
ENST00000565018.6,
ENST00000561831.7,
ENST00000564999.5,
ENST00000354452.8,
ENST00000570287.6,
ENST00000570177.6,
ENST00000398339.5,
ENST00000540999.5,
ENST00000616053.4,
ENST00000626584.2,
ENST00000629387.2,
ENST00000635822.2,
ENST00000636400.2,
ENST00000636822.2,
ENST00000637169.2,
ENST00000638154.3,
ENST00000643689.1,
ENST00000675707.1 )
TCF4 p.Arg678Gln (p.R678Q) ( ENST00000566286.5, ENST00000636400.2, ENST00000566279.5, ENST00000636822.2, ENST00000637169.2, ENST00000565018.6, ENST00000638154.3, ENST00000354452.8, ENST00000356073.8, ENST00000398339.5, ENST00000616053.4, ENST00000457482.7, ENST00000537578.5, ENST00000537856.7, ENST00000540999.5, ENST00000570287.6, ENST00000570177.6, ENST00000564999.5, ENST00000564403.6, ENST00000543082.5, ENST00000629387.2, ENST00000544241.6, ENST00000568740.5, ENST00000567880.5, ENST00000561831.7, ENST00000643689.1, ENST00000561992.5, ENST00000675707.1, ENST00000626584.2, ENST00000635822.2, ENST00000564228.5, ENST00000568673.5 ) - Associated Disease
- Pitt-Hopkins syndrome
- Source Database
- ClinVar
- Description
- NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) AND Pitt-Hopkins syndrome
- ClinVar Allele ID
- 375991
- ClinVar RefSeq Alternation Syntax
- NM_001369568.1:c.1727G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369573.1:c.1712G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348216.2:c.1247G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369567.1:c.1727G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348213.2:c.1337G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243233.2:c.1325G>A
- ClinVar RefSeq Alternation Syntax
- NM_001306208.1:c.1502G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348214.2:c.1232G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348217.1:c.1655G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243234.2:c.1247G>A
- ClinVar RefSeq Alternation Syntax
- NM_001330604.3:c.1724G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243235.2:c.1235G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369575.1:c.1655G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348215.2:c.1079G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243236.2:c.1235G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243228.2:c.1745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369583.1:c.1643G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243227.2:c.1655G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348211.2:c.1601G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348212.2:c.1325G>A
- ClinVar RefSeq Alternation Syntax
- NM_001330605.3:c.1337G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369578.1:c.1652G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243226.3:c.2033G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243231.2:c.1589G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369570.1:c.1724G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369579.1:c.1652G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348220.1:c.1640G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369574.1:c.1712G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369571.1:c.1715G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369572.1:c.1715G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369569.1:c.1724G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369581.1:c.1652G>A
- ClinVar RefSeq Alternation Syntax
- NM_003199.3:c.1715G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369577.1:c.1652G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369580.1:c.1652G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348218.2:c.1655G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243230.2:c.1706G>A
- ClinVar RefSeq Alternation Syntax
- NM_001306207.1:c.1643G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369576.1:c.1652G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369582.1:c.1643G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369584.1:c.1640G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369585.1:c.1640G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369586.1:c.1658G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243232.1:c.1514G>A
- ClinVar RefSeq Alternation Syntax
- NM_001348219.2:c.1643G>A
- ClinVar RefSeq Alternation Syntax
- NM_001083962.2:c.1727G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-03-26
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001507071
- ClinVar Disease
- Pitt-Hopkins syndrome
- Observed Origin Sample
- germline
Drugs