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Details for MSH4:c.2220_2223del, p.Met740fs

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
76355047	75889362

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TGAAA

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2220_2223del

PROTEIN CHANGE

p.Met740fs

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.109252	Disease causing

DBSNP ID

1 combination linked to MSH4:c.2220_2223del, p.Met740fs

1 disease linked to MSH4:c.2220_2223del, p.Met740fs

Primary ovarian failure

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