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Details for TSPAN7:c.515C>A, p.Pro172His

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
38535032	38675778

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.515C>A

PROTEIN CHANGE

p.Pro172His

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
0.0009346	0.0001521	0.0002922	0.0	0.0	0.0008755	0.001776	0.0002215	5.249e-05

ESP
AA	EA
0.0	0.001338

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.539416	Polymorphism

DBSNP ID

1 combination linked to TSPAN7:c.515C>A, p.Pro172His

1 disease linked to TSPAN7:c.515C>A, p.Pro172His

Transposition of the great arteries

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