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Details for CELSR2:c.1892C>T, p.Thr631Met

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
109794593	109251971

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1892C>T

PROTEIN CHANGE

p.Thr631Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0014	0.0	0.004	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003739	0.00123	0.002688	0.0	5.437e-05	0.001433	0.006368	0.003424	0.001633

ESP
AA	EA
0.001362	0.004302

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.553864	Polymorphism

DBSNP ID

1 combination linked to CELSR2:c.1892C>T, p.Thr631Met

1 disease linked to CELSR2:c.1892C>T, p.Thr631Met

Isolated anencephaly

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