chr16:16173283:C>A Detail (hg38) (ABCC6)

Information

Genome

Assembly Position
hg19 chr16:16,267,140-16,267,140 View the variant detail on this assembly version.
hg38 chr16:16,173,283-16,173,283

HGVS

Type Transcript Protein
RefSeq NM_001171.5:c.2787+1G>T
Ensemble ENST00000205557.12:c.2787+1G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 603234 OMIM
HGNC 57 HGNC
Ensembl ENSG00000091262 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-01-13 no assertion criteria provided Autosomal recessive inherited pseudoxanthoma elasticum germline Detail
Pathogenic 2023-06-30 criteria provided, single submitter Arterial calcification, generalized, of infancy, 2 germline unknown Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal recessive inherited pseudoxanthoma elasticum,Pseudoxanthoma elasticum, forme fruste,Arterial calcification, generalized, of infancy, 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal recessive inherited pseudoxanthoma elasticum,Pseudoxanthoma elasticum, forme fruste,Arterial calcification, generalized, of infancy, 2 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal recessive inherited pseudoxanthoma elasticum,Pseudoxanthoma elasticum, forme fruste,Arterial calcification, generalized, of infancy, 2 unknown Detail
Likely pathogenic 2023-06-21 criteria provided, single submitter ABCC6-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.657 pseudoxanthoma elasticum NA CLINVAR Detail
0.240 Arterial calcification, generalized, of infancy, 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001171.6(ABCC6):c.2787+1G>T AND Autosomal recessive inherited pseudoxanthoma elasticum ClinVar Detail
NM_001171.6(ABCC6):c.2787+1G>T AND Arterial calcification, generalized, of infancy, 2 ClinVar Detail
NM_001171.6(ABCC6):c.2787+1G>T AND not provided ClinVar Detail
NM_001171.6(ABCC6):c.2787+1G>T AND multiple conditions ClinVar Detail
NM_001171.6(ABCC6):c.2787+1G>T AND multiple conditions ClinVar Detail
NM_001171.6(ABCC6):c.2787+1G>T AND multiple conditions ClinVar Detail
NM_001171.6(ABCC6):c.2787+1G>T AND ABCC6-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs72664209 dbSNP
Genome
hg38
Position
chr16:16,173,283-16,173,283
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120874
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.927693300461637E-5
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