chr16:1507265:C>T Detail (hg19) (CLCN7)

Information

Genome

Assembly Position
hg19 chr16:1,507,265-1,507,265
hg38 chr16:1,457,264-1,457,264 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001287.5:c.812G>A NP_001278.1:p.Arg271Gln
Ensemble ENST00000699947.1:c.812G>A ENST00000699947.1:p.Arg271Gln
ENST00000262318.12:c.740G>A ENST00000262318.12:p.Arg247Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
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 602727 OMIM
HGNC 2025 HGNC
Ensembl ENSG00000103249 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv54342878 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2023-12-15 criteria provided, single submitter not provided germline Detail
Uncertain significance 2021-07-16 criteria provided, single submitter Hypopigmentation, organomegaly, and delayed myelination and development,autosomal dominant osteopetrosis 2,autosomal recessive osteopetrosis 4 unknown Detail
Uncertain significance 2021-07-16 criteria provided, single submitter Hypopigmentation, organomegaly, and delayed myelination and development,autosomal dominant osteopetrosis 2,autosomal recessive osteopetrosis 4 unknown Detail
Uncertain significance 2021-07-16 criteria provided, single submitter Hypopigmentation, organomegaly, and delayed myelination and development,autosomal dominant osteopetrosis 2,autosomal recessive osteopetrosis 4 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) AND not provided ClinVar Detail
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) AND multiple conditions ClinVar Detail
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) AND multiple conditions ClinVar Detail
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) 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
rs541169535 dbSNP
Genome
hg19
Position
chr16:1,507,265-1,507,265
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1204
Mean of sample read depth (HGVD)
95.33
Standard deviation of sample read depth (HGVD)
46.70
Number of reference allele (HGVD)
2407
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.152823920265781E-4
Gene Symbol (HGVD)
CLCN7
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1576753878212549E-4
Chromosome Counts in All Race (ExAC)
120816
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.138524698715402E-5
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