chr14:24730984:C>T Detail (hg19) (TGM1)

Information

Genome

Assembly Position
hg19 chr14:24,730,984-24,730,984
hg38 chr14:24,261,778-24,261,778 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000359.2:c.425G>A NP_000350.1:p.Arg142His
Ensemble ENST00000206765.11:c.425G>A ENST00000206765.11:p.Arg142His
ENST00000544573.5:c.-29+349G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 tgv50173793 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-10-06 criteria provided, multiple submitters, no conflicts autosomal recessive congenital ichthyosis 1 germline unknown Detail
Pathogenic 2023-11-24 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2021-07-10 criteria provided, single submitter germline Detail
Pathogenic 2023-10-18 criteria provided, single submitter Lamellar ichthyosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Ichthyosis Congenita II NA CLINVAR Detail
0.258 Congenital Nonbullous Ichthyosiform Erythroderma Because of evidences that transglutaminase enzymes are involved in programmed ce... BeFree 19278426 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000359.3(TGM1):c.425G>A (p.Arg142His) AND Autosomal recessive congenital ichthyosis 1 ClinVar Detail
NM_000359.3(TGM1):c.425G>A (p.Arg142His) AND not provided ClinVar Detail
NM_000359.3(TGM1):c.425G>A (p.Arg142His) AND Abnormality of the skin ClinVar Detail
NM_000359.3(TGM1):c.425G>A (p.Arg142His) AND Lamellar ichthyosis ClinVar Detail
NA DisGeNET Detail
Because of evidences that transglutaminase enzymes are involved in programmed cell death, we investi... 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
rs121918718 dbSNP
Genome
hg19
Position
chr14:24,730,984-24,730,984
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121918718
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1560693641618497E-4
Chromosome Counts in All Race (ExAC)
121358
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.240083060037246E-6
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