chr14:24729196:A>T Detail (hg19) (TGM1)

Information

Genome

Assembly Position
hg19 chr14:24,729,196-24,729,196
hg38 chr14:24,259,990-24,259,990 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000359.2:c.826T>A NP_000350.1:p.Tyr276Asn
Ensemble ENST00000544573.5:c.-28-1602T>A
ENST00000206765.11:c.826T>A ENST00000206765.11:p.Tyr276Asn
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 190195 OMIM
HGNC 11777 HGNC
Ensembl ENSG00000092295 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 2009-08-01 no assertion criteria provided autosomal recessive congenital ichthyosis 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Ichthyosis Congenita II NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000359.3(TGM1):c.826T>A (p.Tyr276Asn) AND Autosomal recessive congenital ichthyosis 1 ClinVar Detail
NA DisGeNET 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
rs397514523 dbSNP
Genome
hg19
Position
chr14:24,729,196-24,729,196
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser