chr14:102348705:C>T Detail (hg38) (CINP)

Information

Genome

Assembly Position
hg19 chr14:102,815,042-102,815,042 View the variant detail on this assembly version.
hg38 chr14:102,348,705-102,348,705

HGVS

Type Transcript Protein
RefSeq NM_032630.2:c.491G>A NP_116019.1:p.Arg164His
NM_001320046.1:c.*4G>A
Ensemble ENST00000216756.11:c.491G>A ENST00000216756.11:p.Arg164His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.118
ToMMo:0.141
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.088

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 613362 OMIM
HGNC 23789 HGNC
Ensembl ENSG00000100865 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv52003684 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 multiple myeloma In our retrospective study, we analyzed candidate single-nucleotide polymorphism... BeFree 21859556 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_032630.3(CINP):c.491G>A (p.Arg164His) AND not provided ClinVar Detail
In our retrospective study, we analyzed candidate single-nucleotide polymorphisms (SNP), CINP (rs701... 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
rs7011 dbSNP
Genome
hg38
Position
chr14:102,348,705-102,348,705
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
62.43
Standard deviation of sample read depth (HGVD)
30.08
Number of reference allele (HGVD)
2130
Number of alternative allele (HGVD)
286
Allele Frequency (HGVD)
0.1183774834437086
Gene Symbol (HGVD)
CINP
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))
rs7011
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1407
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2358
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8316
East Asian Allele Counts (ExAC)
732
East Asian Heterozygous Counts (ExAC)
658
East Asian Homozygous Counts (ExAC)
37
East Asian Allele Frequency (ExAC)
0.08802308802308802
Chromosome Counts in All Race (ExAC)
116136
Allele Counts in All Race (ExAC)
28342
Heterozygous Counts in All Race (ExAC)
21006
Homozygous Counts in All Race (ExAC)
3668
Allele Frequency in All Race (ExAC)
0.24404146862299372
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