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Details for LAMC1:c.2871G>T, p.Gln957His

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
183095324	183126189

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.2871G>T

PROTEIN CHANGE

p.Gln957His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0008037	0.0001231	0.0	0.0	0.0	0.001017	0.001505	0.001141	0.0

ESP
AA	EA
0.000227	0.0006977

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.742303	Polymorphism

DBSNP ID

1 combination linked to LAMC1:c.2871G>T, p.Gln957His

1 disease linked to LAMC1:c.2871G>T, p.Gln957His

Isolated anencephaly

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