chr16:88432614:G>A Detail (hg38) (ZNF469)

Information

Genome

Assembly Position
hg19 chr16:88,499,022-88,499,022 View the variant detail on this assembly version.
hg38 chr16:88,432,614-88,432,614

HGVS

Type Transcript Protein
RefSeq NM_001127464.2:c.5060G>A NP_001120936.2:p.Arg1687Lys
Ensemble ENST00000437464.1:c.5060G>A ENST00000437464.1:p.Arg1687Lys
ENST00000565624.3:c.5144G>A ENST00000565624.3:p.Arg1715Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

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 tgv285976203 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic no assertion criteria provided Keratoconus 1 germline Detail
Uncertain significance 2022-06-20 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2019-10-01 criteria provided, single submitter Ehlers-Danlos syndrome germline Detail
Uncertain significance 2021-07-29 criteria provided, single submitter germline Detail
Uncertain significance 2021-10-05 criteria provided, single submitter brittle cornea syndrome 1 unknown 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.5144G>A (p.Arg1715Lys) AND Keratoconus 1 ClinVar Detail
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) AND not provided ClinVar Detail
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) AND Ehlers-Danlos syndrome ClinVar Detail
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) AND Cardiovascular phenotype ClinVar Detail
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) AND Brittle cornea syndrome 1 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
rs281865149 dbSNP
Genome
hg38
Position
chr16:88,432,614-88,432,614
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
600
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)
19430
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)
1.029336078229542E-4
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