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Details for TPM1:c.644C>T, p.Ser215Leu

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
63354418	63062219

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.644C>T

PROTEIN CHANGE

p.Ser215Leu

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
3.98e-06	0.0	0.0	0.0	0.0	0.0	8.806e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	4.431507	Disease causing

DBSNP ID

1 combination linked to TPM1:c.644C>T, p.Ser215Leu

1 disease linked to TPM1:c.644C>T, p.Ser215Leu

NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

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