Annotation Detail

Information
Associated Genes
MAPT
Associated Variants
MAPT p.Gly664Val (p.G664V) ( ENST00000420682.7, ENST00000680674.1, ENST00000334239.12, ENST00000351559.10, ENST00000431008.7, ENST00000571987.5, ENST00000446361.7, ENST00000415613.6, ENST00000262410.10, ENST00000344290.10, ENST00000574436.5, ENST00000535772.6 )
MAPT p.Gly664Val (p.G664V) ( ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000446361.7, ENST00000535772.6, ENST00000571987.5, ENST00000574436.5, ENST00000680674.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001377265.1(MAPT):c.1991G>T (p.Gly664Val) AND not provided
ClinVar Allele ID
29285
ClinVar RefSeq Alternation Syntax
NM_001377267.1:c.728G>T
ClinVar RefSeq Alternation Syntax
NM_001123066.4:c.1820G>T
ClinVar RefSeq Alternation Syntax
NM_001203252.2:c.815G>T
ClinVar RefSeq Alternation Syntax
NM_005910.6:c.815G>T
ClinVar RefSeq Alternation Syntax
NM_001377265.1:c.1991G>T
ClinVar RefSeq Alternation Syntax
NM_016834.5:c.641G>T
ClinVar RefSeq Alternation Syntax
NR_165166.1:n.739G>T
ClinVar RefSeq Alternation Syntax
NM_001203251.2:c.728G>T
ClinVar RefSeq Alternation Syntax
NM_016841.5:c.641G>T
ClinVar RefSeq Alternation Syntax
NM_001377266.1:c.1793G>T
ClinVar RefSeq Alternation Syntax
NM_001123067.4:c.728G>T
ClinVar RefSeq Alternation Syntax
NM_016835.5:c.1766G>T
ClinVar RefSeq Alternation Syntax
NM_001377268.1:c.641G>T
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000084519
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs