chr11:46726871:C>T Detail (hg19) (ZNF408)

Information

Genome

Assembly Position
hg19 chr11:46,726,871-46,726,871
hg38 chr11:46,705,321-46,705,321 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001184751.1:c.1621C>T NP_001171680.1:p.Arg541Cys
NM_024741.2:c.1621C>T NP_079017.1:p.Arg541Cys
Ensemble ENST00000311764.3:c.1621C>T ENST00000311764.3:p.Arg541Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 616454 OMIM
HGNC 20041 HGNC
Ensembl ENSG00000175213 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42430302 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-07-15 no assertion criteria provided retinitis pigmentosa 72 germline Detail
Likely pathogenic 2018-08-01 criteria provided, single submitter Retinal dystrophy germline Detail
Pathogenic 2023-05-24 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2022-03-01 criteria provided, single submitter retinitis pigmentosa 72,exudative vitreoretinopathy 6 unknown Detail
Likely pathogenic 2022-03-01 criteria provided, single submitter retinitis pigmentosa 72,exudative vitreoretinopathy 6 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) AND Retinitis pigmentosa 72 ClinVar Detail
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) AND Retinal dystrophy ClinVar Detail
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) AND not provided ClinVar Detail
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) AND multiple conditions ClinVar Detail
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) AND multiple conditions ClinVar 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
rs781192528 dbSNP
Genome
hg19
Position
chr11:46,726,871-46,726,871
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs781192528
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0004
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
East Asian Chromosome Counts (ExAC)
8516
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
116058
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.7232762928880387E-5
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