chr2:47177603:G>T Detail (hg19) (TTC7A)

Information

Genome

Assembly Position
hg19 chr2:47,177,603-47,177,603
hg38 chr2:46,950,464-46,950,464 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001288955.1:c.286G>T NP_001275884.1:p.Glu96Ter
NM_020458.3:c.286G>T NP_065191.2:p.Glu96Ter
NM_001288951.1:c.286G>T NP_001275880.1:p.Glu96Ter
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 609332 OMIM
HGNC 19750 HGNC
Ensembl ENSG00000068724 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 2015-10-13 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-02-02 criteria provided, single submitter Gastrointestinal defects and immunodeficiency syndrome 1 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter) AND not provided ClinVar Detail
NM_020458.4(TTC7A):c.286G>T (p.Glu96Ter) AND Gastrointestinal defects and immunodeficiency syndrome ... ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs886042805 dbSNP
Genome
hg19
Position
chr2:47,177,603-47,177,603
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser