chr6:7569247:A>T Detail (hg38) (DSP)

Information

Genome

Assembly Position
hg19 chr6:7,569,480-7,569,480 View the variant detail on this assembly version.
hg38 chr6:7,569,247-7,569,247

HGVS

Type Transcript Protein
RefSeq NM_004415.3:c.1481A>T NP_004406.2:p.Tyr494Phe
NM_001008844.2:c.1481A>T NP_001008844.1:p.Tyr494Phe
NM_001319034.1:c.1481A>T NP_001305963.1:p.Tyr494Phe
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.108
ToMMo:0.097
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.077

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 125647 OMIM
HGNC 3052 HGNC
Ensembl ENSG00000096696 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24189784 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-04-26 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2015-08-03 criteria provided, single submitter germline Detail
Benign 2018-01-12 criteria provided, single submitter arrhythmogenic right ventricular dysplasia 8 germline Detail
Benign 2018-01-12 criteria provided, single submitter Woolly hair-skin fragility syndrome germline Detail
Benign 2018-01-12 criteria provided, single submitter Lethal acantholytic epidermolysis bullosa germline Detail
Benign 2024-02-01 criteria provided, single submitter arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma germline Detail
Benign 2024-02-01 criteria provided, single submitter arrhythmogenic right ventricular dysplasia 8,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma germline Detail
Benign 2018-03-07 criteria provided, single submitter cardiomyopathy germline Detail
Benign 2023-09-22 criteria provided, single submitter not provided germline Detail
Likely benign 2021-08-09 criteria provided, single submitter Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,arrhythmogenic right ventricular dysplasia 8,Woolly hair-skin fragility syndrome,Lethal acantholytic epidermolysis bullosa,keratosis palmoplantaris striata 2 unknown Detail
Likely benign 2021-08-09 criteria provided, single submitter Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,arrhythmogenic right ventricular dysplasia 8,Woolly hair-skin fragility syndrome,Lethal acantholytic epidermolysis bullosa,keratosis palmoplantaris striata 2 unknown Detail
Likely benign 2021-08-09 criteria provided, single submitter Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,arrhythmogenic right ventricular dysplasia 8,Woolly hair-skin fragility syndrome,Lethal acantholytic epidermolysis bullosa,keratosis palmoplantaris striata 2 unknown Detail
Likely benign 2021-08-09 criteria provided, single submitter Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,arrhythmogenic right ventricular dysplasia 8,Woolly hair-skin fragility syndrome,Lethal acantholytic epidermolysis bullosa,keratosis palmoplantaris striata 2 unknown Detail
Likely benign 2021-08-09 criteria provided, single submitter Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,arrhythmogenic right ventricular dysplasia 8,Woolly hair-skin fragility syndrome,Lethal acantholytic epidermolysis bullosa,keratosis palmoplantaris striata 2 unknown Detail
Likely benign 2021-08-09 criteria provided, single submitter Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis,Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,arrhythmogenic right ventricular dysplasia 8,Woolly hair-skin fragility syndrome,Lethal acantholytic epidermolysis bullosa,keratosis palmoplantaris striata 2 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND not specified ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND Cardiovascular phenotype ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND Arrhythmogenic right ventricular dysplasia 8 ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND Woolly hair-skin fragility syndrome ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND Lethal acantholytic epidermolysis bullosa ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND multiple conditions ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND multiple conditions ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND Cardiomyopathy ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND not provided ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND multiple conditions ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND multiple conditions ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND multiple conditions ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND multiple conditions ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND multiple conditions ClinVar Detail
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) AND multiple conditions 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
rs28763961 dbSNP
Genome
hg38
Position
chr6:7,569,247-7,569,247
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1202
Mean of sample read depth (HGVD)
62.79
Standard deviation of sample read depth (HGVD)
33.15
Number of reference allele (HGVD)
2144
Number of alternative allele (HGVD)
260
Allele Frequency (HGVD)
0.10815307820299501
Gene Symbol (HGVD)
DSP
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))
rs28763961
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0968
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1623
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
669
East Asian Heterozygous Counts (ExAC)
611
East Asian Homozygous Counts (ExAC)
29
East Asian Allele Frequency (ExAC)
0.07735892691951897
Chromosome Counts in All Race (ExAC)
121404
Allele Counts in All Race (ExAC)
1428
Heterozygous Counts in All Race (ExAC)
1332
Homozygous Counts in All Race (ExAC)
48
Allele Frequency in All Race (ExAC)
0.011762380152219037
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