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Details for COL4A1:c.401C>T, p.Pro134Leu

CHROMOSOME

13

GENOMIC COORDINATES

hg19	hg38
110864256	110211909

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.401C>T

PROTEIN CHANGE

p.Pro134Leu

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
0.000374	0.0	0.0	0.0	0.0	0.002633	0.0003079	0.0003261	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.059491	None

DBSNP ID

1 combination linked to COL4A1:c.401C>T, p.Pro134Leu

1 disease linked to COL4A1:c.401C>T, p.Pro134Leu

Amyotrophic lateral sclerosis

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