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Details for HNF4A:c.379C>T, p.Arg127Trp

CHROMOSOME

20

GENOMIC COORDINATES

hg19	hg38
43042348	44413708

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.379C>T

PROTEIN CHANGE

p.Arg127Trp

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.99e-06	0.0	2.896e-05	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.187195	Disease causing

DBSNP ID

1 combination linked to HNF4A:c.379C>T, p.Arg127Trp

1 disease linked to HNF4A:c.379C>T, p.Arg127Trp

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