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Details for LAMC1:c.713C>T, p.Pro238Leu

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
183072757	183103622

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.713C>T

PROTEIN CHANGE

p.Pro238Leu

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
Tolerated	Benign	2.867721	Polymorphism

DBSNP ID

1 combination linked to LAMC1:c.713C>T, p.Pro238Leu

1 disease linked to LAMC1:c.713C>T, p.Pro238Leu

Mayer-Rokitansky-Küster-Hauser syndrome

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