chr7:5529315:G>A Detail (hg38) (ACTB)

Information

Genome

Assembly Position
hg19 chr7:5,568,946-5,568,946 View the variant detail on this assembly version.
hg38 chr7:5,529,315-5,529,315

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000432588.6:c.209C>T ENST00000432588.6:p.Pro70Leu
ENST00000473257.3:c.80C>T ENST00000473257.3:p.Pro27Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 2022-06-24 criteria provided, single submitter Baraitser-Winter syndrome 1 germline Detail
Likely pathogenic 2020-10-23 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.209C>T (p.Pro70Leu) AND Baraitser-Winter syndrome 1 ClinVar Detail
NM_001101.5(ACTB):c.209C>T (p.Pro70Leu) 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
rs587779769 dbSNP
Genome
hg38
Position
chr7:5,529,315-5,529,315
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser