chr17:50188777:C>T Detail (hg38) (COL1A1)

Information

Genome

Assembly Position
hg19 chr17:48,266,138-48,266,138 View the variant detail on this assembly version.
hg38 chr17:50,188,777-50,188,777

HGVS

Type Transcript Protein
RefSeq NM_000088.3:c.3064G>A NP_000079.2:p.Gly1022Ser
Ensemble ENST00000225964.10:c.3064G>A ENST00000225964.10:p.Gly1022Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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
Pathogenic 1989-11-25 no assertion criteria provided Osteogenesis imperfecta type III germline Detail
Pathogenic 2023-06-07 criteria provided, single submitter COL1A1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 Osteogenesis imperfecta type III (disorder) Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of ... BeFree 23072183 Detail
0.562 Osteogenesis imperfecta type III (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser) AND Osteogenesis imperfecta type III ClinVar Detail
NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser) AND COL1A1-related disorder ClinVar Detail
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a gir... DisGeNET 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
rs66523073 dbSNP
Genome
hg38
Position
chr17:50,188,777-50,188,777
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser