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Details for SLC4A1:c.388G>A, p.Gly130Arg

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
42337869	44260501

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.388G>A

PROTEIN CHANGE

p.Gly130Arg

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
0.0001353	0.0	5.787e-05	0.0	0.00136	0.0	3.519e-05	0.0001632	6.534e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.541451	Disease causing

DBSNP ID

1 combination linked to SLC4A1:c.388G>A, p.Gly130Arg

1 disease linked to SLC4A1:c.388G>A, p.Gly130Arg

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