chr16:88502973:TTCCCGGGAACACCC> Detail (hg19) (ZNF469)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr16:88,502,973-88,502,987
hg38	chr16:88,436,565-88,436,579

HGVS

ZNF469

Type	Transcript	Protein
RefSeq	NM_001127464.2:c.9011_9025delTTCCCGGGAACACCC	NP_001120936.2:p.Leu3004_Thr3008del
Ensemble	ENST00000437464.1:c.9011_9025delTTCCCGGGAACACCC	ENST00000437464.1:p.Leu3004_Thr3008del
	ENST00000565624.3:c.9095_9109delTTCCCGGGAACACCC	ENST00000565624.3:p.Leu3032_Thr3036del

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	Benign Likely benign
Review star
Show details

Links

ZNF469

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	COSM4612068	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
Benign Likely benign	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2021-12-05	criteria provided, single submitter	brittle cornea syndrome 1	germline	Detail
Likely benign	2022-05-12	criteria provided, single submitter	Ehlers-Danlos syndrome	germline	Detail
Likely benign	2019-03-22	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Keratoconus 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) AND Keratoconus 1	ClinVar	Detail
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) AND not provided	ClinVar	Detail
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) AND Brittle cornea syndrome 1	ClinVar	Detail
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) AND Ehlers-Danlos syndrome	ClinVar	Detail
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) AND Cardiovascular phenotype	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: rs281865162 dbSNP
Genome: hg19
Position: chr16:88,502,973-88,502,987
Variant Type: snv
Reference Allele: TTCCCGGGAACACCC
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 508
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): 17306
Allele Counts in All Race (ExAC): 80
Heterozygous Counts in All Race (ExAC): 76
Homozygous Counts in All Race (ExAC): 2
Allele Frequency in All Race (ExAC): 0.004622674217034555

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