chr17:48274414:C>T Detail (hg19) (COL1A1, LOC126862586)

Information

Genome

Assembly Position
hg19 chr17:48,274,414-48,274,414
hg38 chr17:50,197,053-50,197,053 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000088.3:c.761G>A NP_000079.2:p.Gly254Glu
Ensemble ENST00000225964.10:c.761G>A ENST00000225964.10:p.Gly254Glu
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 2001-04-01 no assertion criteria provided Osteogenesis imperfecta type III germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 Osteogenesis imperfecta type III (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000088.4(COL1A1):c.761G>A (p.Gly254Glu) AND Osteogenesis imperfecta type III 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
rs72645320 dbSNP
Genome
hg19
Position
chr17:48,274,414-48,274,414
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser