chr7:5529175:C>T Detail (hg38) (ACTB)

Information

Genome

Assembly Position
hg19 chr7:5,568,806-5,568,806 View the variant detail on this assembly version.
hg38 chr7:5,529,175-5,529,175

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000432588.6:c.349G>A ENST00000432588.6:p.Glu117Lys
ENST00000473257.3:c.220G>A ENST00000473257.3:p.Glu74Lys
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 102630 OMIM
HGNC 132 HGNC
Ensembl ENSG00000075624 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 2014-04-15 no assertion criteria provided Baraitser-Winter syndrome 1 germline Detail
Pathogenic 2023-10-27 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) AND Baraitser-Winter syndrome 1 ClinVar Detail
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) AND not provided 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
rs397515470 dbSNP
Genome
hg38
Position
chr7:5,529,175-5,529,175
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser