chr17:81511224:G>T Detail (hg38) (ACTG1)

Information

Genome

Assembly Position
hg19 chr17:79,478,250-79,478,250 View the variant detail on this assembly version.
hg38 chr17:81,511,224-81,511,224

HGVS

Type Transcript Protein
RefSeq NM_001199954.1:c.766C>A NP_001186883.1:p.Arg256=
Ensemble ENST00000570382.2:c.766C>A ENST00000570382.2:p.Arg256=
ENST00000571691.6:c.694C>A ENST00000571691.6:p.Arg232=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
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 tgv58917830 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2018-06-06 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Baraitser-Winter syndrome 2 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndr... UNIPROT 22366783 Detail
0.240 Baraitser-Winter syndrome 2 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001614.5(ACTG1):c.766C>A (p.Arg256=) AND not provided ClinVar Detail
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. DisGeNET 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
rs281875329 dbSNP
Genome
hg38
Position
chr17:81,511,224-81,511,224
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1199
Mean of sample read depth (HGVD)
54.29
Standard deviation of sample read depth (HGVD)
30.45
Number of reference allele (HGVD)
2397
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.170141784820684E-4
Gene Symbol (HGVD)
ACTG1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs281875329
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0006
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8636
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.157943492357573E-4
Chromosome Counts in All Race (ExAC)
119700
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.35421888053467E-6
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