chr14:24727864:C>T Detail (hg19) (TGM1)

Information

Genome

Assembly Position
hg19 chr14:24,727,864-24,727,864
hg38 chr14:24,258,658-24,258,658 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000359.2:c.1175G>A NP_000350.1:p.Gly392Asp
Ensemble ENST00000206765.11:c.1175G>A ENST00000206765.11:p.Gly392Asp
ENST00000544573.5:c.-28-270G>A
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 2001-04-01 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.1175G>A (p.Gly392Asp) 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
rs121918726 dbSNP
Genome
hg19
Position
chr14:24,727,864-24,727,864
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser