chr17:81511392:A>T Detail (hg38) (ACTG1)

Information

Genome

Assembly Position
hg19 chr17:79,478,418-79,478,418 View the variant detail on this assembly version.
hg38 chr17:81,511,392-81,511,392

HGVS

Type Transcript Protein
RefSeq NM_001199954.1:c.598T>A NP_001186883.1:p.Phe200Ile
Ensemble ENST00000570382.2:c.598T>A ENST00000570382.2:p.Phe200Ile
ENST00000571691.6:c.526T>A ENST00000571691.6:p.Phe176Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 102560 OMIM
HGNC 144 HGNC
Ensembl ENSG00000184009 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
Likely pathogenic 2013-06-28 criteria provided, single submitter Baraitser-Winter syndrome 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Baraitser-Winter syndrome 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) AND Baraitser-winter syndrome 2 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
rs587780275 dbSNP
Genome
hg38
Position
chr17:81,511,392-81,511,392
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Genome browser