chr12:101651385:C>G Detail (hg38) (MYBPC1)

Information

Genome

Assembly Position
hg19 chr12:102,045,163-102,045,163 View the variant detail on this assembly version.
hg38 chr12:101,651,385-101,651,385

HGVS

Type Transcript Protein
RefSeq NM_206820.2:c.1443C>G NP_996556.1:p.His481Gln
NM_206821.2:c.1443C>G NP_996557.1:p.His481Gln
NM_002465.3:c.1518C>G NP_002456.2:p.His506Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.309
ToMMo:0.315
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.294

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 160794 OMIM
HGNC 7549 HGNC
Ensembl ENSG00000196091 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47012106 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2013-08-15 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-09-05 criteria provided, multiple submitters, no conflicts Arthrogryposis, distal, type 1B germline Detail
Benign 2019-09-04 criteria provided, single submitter not provided germline Detail
Benign 2021-09-05 criteria provided, single submitter lethal congenital contracture syndrome 4 germline Detail
Benign 2021-09-05 criteria provided, single submitter Myopathy, congenital, with tremor germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND not specified ClinVar Detail
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND Arthrogryposis, distal, type 1B ClinVar Detail
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND not provided ClinVar Detail
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND Lethal congenital contracture syndrome 4 ClinVar Detail
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) AND Myopathy, congenital, with tremor 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
rs3817552 dbSNP
Genome
hg38
Position
chr12:101,651,385-101,651,385
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1184
Mean of sample read depth (HGVD)
33.69
Standard deviation of sample read depth (HGVD)
32.47
Number of reference allele (HGVD)
1637
Number of alternative allele (HGVD)
731
Allele Frequency (HGVD)
0.30869932432432434
Gene Symbol (HGVD)
MYBPC1
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))
rs3817552
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.315
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5280
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2548
East Asian Heterozygous Counts (ExAC)
1798
East Asian Homozygous Counts (ExAC)
375
East Asian Allele Frequency (ExAC)
0.29443032123873353
Chromosome Counts in All Race (ExAC)
121384
Allele Counts in All Race (ExAC)
19068
Heterozygous Counts in All Race (ExAC)
15690
Homozygous Counts in All Race (ExAC)
1689
Allele Frequency in All Race (ExAC)
0.1570882488631121
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