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Details for NEK1:c.1640dup, p.Asn547LysfsTer2

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
170458984	169537833

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

AT

TRANSCRIPT

CDNA CHANGE

c.1640dup

PROTEIN CHANGE

p.Asn547LysfsTer2

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	4.980438	Disease causing

DBSNP ID

1 combination linked to NEK1:c.1640dup, p.Asn547LysfsTer2

1 disease linked to NEK1:c.1640dup, p.Asn547LysfsTer2

Short rib-polydactyly syndrome

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