chr16:88503009:C>T Detail (hg19) (ZNF469)

Information

Genome

Assembly Position
hg19 chr16:88,503,009-88,503,009
hg38 chr16:88,436,601-88,436,601 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127464.2:c.9047C>T NP_001120936.2:p.Thr3016Met
Ensemble ENST00000565624.3:c.9131C>T ENST00000565624.3:p.Thr3044Met
ENST00000437464.1:c.9047C>T ENST00000437464.1:p.Thr3016Met
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:[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 tgv56575070 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 2022-06-17 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2019-08-13 criteria provided, single submitter germline Detail
Uncertain significance 2022-03-04 criteria provided, single submitter brittle cornea syndrome 1 unknown Detail
Uncertain significance 2023-02-28 criteria provided, single submitter not specified 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.9131C>T (p.Thr3044Met) AND Keratoconus 1 ClinVar Detail
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) AND not provided ClinVar Detail
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) AND Cardiovascular phenotype ClinVar Detail
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) AND Brittle cornea syndrome 1 ClinVar Detail
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) AND not specified 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
rs273585626 dbSNP
Genome
hg19
Position
chr16:88,503,009-88,503,009
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))
rs273585626
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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