chr7:5569255:T>C Detail (hg19) (ACTB)

Information

Genome

Assembly Position
hg19 chr7:5,569,255-5,569,255
hg38 chr7:5,529,624-5,529,624 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000432588.6:c.34A>G ENST00000432588.6:p.Asn12Asp
ENST00000473257.3:c.-6-224A>G
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 2012-02-26 no assertion criteria provided Baraitser-Winter syndrome 1 germline Detail
not provided no assertion provided not provided not provided 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
0.240 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndr... UNIPROT 22366783 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) AND Baraitser-Winter syndrome 1 ClinVar Detail
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) AND not provided ClinVar Detail
NA DisGeNET Detail
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 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
rs281875331 dbSNP
Genome
hg19
Position
chr7:5,569,255-5,569,255
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser