chr9:136498949:C>T Detail (hg38) (NOTCH1, LOC126860794)

Information

Genome

Assembly Position
hg19 chr9:139,393,401-139,393,401 View the variant detail on this assembly version.
hg38 chr9:136,498,949-136,498,949

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000651671.1:c.6130G>A ENST00000651671.1:p.Ala2044Thr
ENST00000680133.1:c.6016G>A ENST00000680133.1:p.Ala2006Thr
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 190198 OMIM
HGNC 7881 HGNC
Ensembl ENSG00000148400 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37992142 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2015-02-09 criteria provided, single submitter germline Detail
Conflicting interpretations of pathogenicity 2024-01-16 criteria provided, conflicting interpretations Adams-Oliver syndrome 5 germline Detail
Uncertain significance 2023-02-21 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-03-15 criteria provided, single submitter aortic valve disease 1 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) AND Cardiovascular phenotype ClinVar Detail
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) AND Adams-Oliver syndrome 5 ClinVar Detail
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) AND not provided ClinVar Detail
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) AND Aortic valve disease 1 ClinVar 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
rs544856644 dbSNP
Genome
hg38
Position
chr9:136,498,949-136,498,949
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))
rs544856644
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)
8616
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1606313834726091E-4
Chromosome Counts in All Race (ExAC)
120382
Allele Counts in All Race (ExAC)
6
Heterozygous Counts in All Race (ExAC)
6
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.9841338406073996E-5
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