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Details for HK3:c.2077A>C, p.Met693Leu

CHROMOSOME

5

GENOMIC COORDINATES

hg19	hg38
176309105	176882104

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.2077A>C

PROTEIN CHANGE

p.Met693Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0043	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002035	0.0	0.0001447	0.0	0.0	0.00111	0.0001503	0.0006534	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.662633	Disease causing

DBSNP ID

1 combination linked to HK3:c.2077A>C, p.Met693Leu

1 disease linked to HK3:c.2077A>C, p.Met693Leu

Primary ovarian failure

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