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Details for COL2A1:p.Pro365Ser

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
48383040	47989257

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Pro365Ser

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	Damaging	3.445969	Disease causing

DBSNP ID

1 combination linked to COL2A1:p.Pro365Ser

1 disease linked to COL2A1:p.Pro365Ser

Holoprosencephaly

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