chr17:44087782:C>T Detail (hg19) (MAPT)

Information

Genome

Assembly Position
hg19 chr17:44,087,782-44,087,782
hg38 chr17:46,010,416-46,010,416 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_016835.4:c.2091+14C>T
NM_001203251.1:c.736-3827C>T
NM_001203252.1:c.736-3827C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 157140 OMIM
HGNC 6893 HGNC
Ensembl ENSG00000186868 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1994-12-01 no assertion criteria provided frontotemporal dementia germline Detail
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.461 frontotemporal dementia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001377265.1(MAPT):c.2091+14C>T AND Frontotemporal dementia ClinVar Detail
NM_001377265.1(MAPT):c.2091+14C>T AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs63750972 dbSNP
Genome
hg19
Position
chr17:44,087,782-44,087,782
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser