chr12:130876696:C>T Detail (hg38) (RAN)

Information

Genome

Assembly Position
hg19 chr12:131,361,241-131,361,241 View the variant detail on this assembly version.
hg38 chr12:130,876,696-130,876,696

HGVS

Type Transcript Protein
RefSeq NM_006325.4:c.*770C>T
Ensemble ENST00000541630.5:c.*770C>T
ENST00000543796.6:c.*770C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.267
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601179 OMIM
HGNC 9846 HGNC
Ensembl ENSG00000132341 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47780475 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
0.003 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Turner syndrome A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
<0.001 Ovarian Failure, Premature A haplotype-based analysis of seven polymorphisms of the microRNA machinery gene... BeFree 23549446 Detail
Annotation

Annotations

DescrptionSourceLinks
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... DisGeNET Detail
A haplotype-based analysis of seven polymorphisms of the microRNA machinery genes for gene-gene inte... 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
rs14035 dbSNP
Genome
hg38
Position
chr12:130,876,696-130,876,696
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))
rs14035
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2672
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4479
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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