chr16:88429533:C>A Detail (hg38) (ZNF469)

Information

Genome

Assembly Position
hg19 chr16:88,495,941-88,495,941 View the variant detail on this assembly version.
hg38 chr16:88,429,533-88,429,533

HGVS

Type Transcript Protein
RefSeq NM_001127464.2:c.2063C>A NP_001120936.2:p.Thr688Asn
Ensemble ENST00000437464.1:c.2063C>A ENST00000437464.1:p.Thr688Asn
ENST00000565624.3:c.2063C>A ENST00000565624.3:p.Thr688Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 612078 OMIM
HGNC 23216 HGNC
Ensembl ENSG00000225614 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 no assertion criteria provided Keratoconus 1 germline Detail
Uncertain significance 2021-08-02 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-07-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Keratoconus 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001367624.2(ZNF469):c.2063C>A (p.Thr688Asn) AND Keratoconus 1 ClinVar Detail
NM_001367624.2(ZNF469):c.2063C>A (p.Thr688Asn) AND not specified ClinVar Detail
NM_001367624.2(ZNF469):c.2063C>A (p.Thr688Asn) 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
rs281865146 dbSNP
Genome
hg38
Position
chr16:88,429,533-88,429,533
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser