chr16:88430374:GTCGGG> Detail (hg38) (ZNF469)

Information

Genome

Assembly Position
hg19 chr16:88,496,782-88,496,787 
hg38 chr16:88,430,374-88,430,379

HGVS

Type Transcript Protein
RefSeq NM_001127464.2:c.2904_2909delGTCGGG NP_001120936.2:p.Ser969_Gly970del
Ensemble ENST00000437464.1:c.2904_2909delGTCGGG ENST00000437464.1:p.Ser969_Gly970del
ENST00000565624.3:c.2904_2909delGTCGGG ENST00000565624.3:p.Ser969_Gly970del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv56574270 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Keratoconus 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs281865147 dbSNP
Genome
hg38
Position
chr16:88,430,374-88,430,379
Variant Type
snv
Reference Allele
GTCGGG
Alternative Allele
-
Genome browser