chr17:50195937:C>T Detail (hg38) (COL1A1)

Information

Genome

Assembly Position
hg19 chr17:48,273,298-48,273,298 View the variant detail on this assembly version.
hg38 chr17:50,195,937-50,195,937

HGVS

Type Transcript Protein
RefSeq NM_000088.3:c.1042G>A NP_000079.2:p.Ala348Thr
Ensemble ENST00000225964.10:c.1042G>A ENST00000225964.10:p.Ala348Thr
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 120150 OMIM
HGNC 2197 HGNC
Ensembl ENSG00000108821 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
Uncertain significance 2018-02-28 criteria provided, single submitter not specified germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter Infantile cortical hyperostosis germline Detail
Uncertain significance 2017-04-27 criteria provided, single submitter Ehlers-Danlos syndrome, arthrochalasia type germline Detail
Uncertain significance 2020-03-01 criteria provided, multiple submitters, no conflicts osteogenesis imperfecta germline Detail
Uncertain significance 2023-10-09 criteria provided, multiple submitters, no conflicts not provided germline Detail
Conflicting interpretations of pathogenicity 2024-01-20 criteria provided, conflicting interpretations Osteogenesis imperfecta type I germline Detail
Likely pathogenic no assertion criteria provided Familial thoracic aortic aneurysm and aortic dissection unknown Detail
Uncertain significance 2020-03-01 criteria provided, single submitter Ehlers-Danlos syndrome germline Detail
Uncertain significance 2023-08-30 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.316 osteogenesis imperfecta NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND not specified ClinVar Detail
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND Infantile cortical hyperostosis ClinVar Detail
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND Ehlers-Danlos syndrome, arthrochalasia type ClinVar Detail
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND Osteogenesis imperfecta ClinVar Detail
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND not provided ClinVar Detail
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND Osteogenesis imperfecta type I ClinVar Detail
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND Familial thoracic aortic aneurysm and aortic dissect... ClinVar Detail
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND Ehlers-Danlos syndrome ClinVar Detail
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) AND Cardiovascular phenotype ClinVar Detail
NA 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
rs139955975 dbSNP
Genome
hg38
Position
chr17:50,195,937-50,195,937
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
2462
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)
36540
Allele Counts in All Race (ExAC)
10
Heterozygous Counts in All Race (ExAC)
10
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.736726874657909E-4
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