chr20:43042348:C>T Detail (hg19) (HNF4A)

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

Genome

Assembly	Position
hg19	chr20:43,042,348-43,042,348
hg38	chr20:44,413,708-44,413,708 View the variant detail on this assembly version.

HGVS

HNF4A

Type	Transcript	Protein
RefSeq	NM_000457.4:c.400C>T	NP_000448.3:p.Arg134Trp
	NM_001258355.1:c.400C>T	NP_001245284.1:p.Arg134Trp
	NM_178849.2:c.400C>T	NP_849180.1:p.Arg134Trp
	NM_178850.2:c.400C>T	NP_849181.1:p.Arg134Trp
	NM_001030003.2:c.334C>T	NP_001025174.1:p.Arg112Trp
	NM_175914.4:c.334C>T	NP_787110.2:p.Arg112Trp
	NM_001030004.2:c.334C>T	NP_001025175.1:p.Arg112Trp
	NM_001287184.1:c.334C>T	NP_001274113.1:p.Arg112Trp
Ensemble	ENST00000316099.10:c.400C>T	ENST00000316099.10:p.Arg134Trp
	ENST00000316673.9:c.334C>T	ENST00000316673.9:p.Arg112Trp
	ENST00000415691.2:c.400C>T	ENST00000415691.2:p.Arg134Trp
	ENST00000443598.6:c.400C>T	ENST00000443598.6:p.Arg134Trp
	ENST00000457232.5:c.334C>T	ENST00000457232.5:p.Arg112Trp
	ENST00000609795.5:c.334C>T	ENST00000609795.5:p.Arg112Trp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

HNF4A

Type	Database	ID	Link
Gene	MIM	600281	OMIM
	HGNC	5024	HGNC
	Ensembl	ENSG00000101076	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
Uncertain significance	2022-09-30	criteria provided, single submitter	not provided	unknown	Detail
Pathogenic	2024-04-05	reviewed by expert panel	Monogenic diabetes	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.608	Diabetes Mellitus, Non-Insulin-Dependent	R127W-HNF-4alpha is a loss of function mutation but not a rare polymorphism and ...	BeFree	10819248	Detail

Annotation

Annotations

Descrption	Source	Links
NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp) AND not provided	ClinVar	Detail
NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp) AND Monogenic diabetes	ClinVar	Detail
R127W-HNF-4alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabe...	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: rs370239205 dbSNP
Genome: hg19
Position: chr20:43,042,348-43,042,348
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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