chr14:24259959:C>T Detail (hg38) (TGM1)

Information

Genome

Assembly Position
hg19 chr14:24,729,165-24,729,165 View the variant detail on this assembly version.
hg38 chr14:24,259,959-24,259,959

HGVS

Type Transcript Protein
RefSeq NM_000359.2:c.857G>A NP_000350.1:p.Arg286Gln
Ensemble ENST00000206765.11:c.857G>A ENST00000206765.11:p.Arg286Gln
ENST00000544573.5:c.-28-1571G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM6800868 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-09-30 criteria provided, multiple submitters, no conflicts autosomal recessive congenital ichthyosis 1 germline unknown Detail
Pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2024-02-12 criteria provided, single submitter TGM1-related disorder 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.857G>A (p.Arg286Gln) AND Autosomal recessive congenital ichthyosis 1 ClinVar Detail
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) AND not provided ClinVar Detail
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) AND TGM1-related disorder 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
rs121918727 dbSNP
Genome
hg38
Position
chr14:24,259,959-24,259,959
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121132
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4766370570947395E-5
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