This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for PCMT1:c.13C>T, p.Arg5Cys

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
150070876	149749740

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.13C>T

PROTEIN CHANGE

p.Arg5Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.057e-05	0.0002753	0.0	0.0	0.0	0.0	1.831e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.590415	Polymorphism

DBSNP ID

1 combination linked to PCMT1:c.13C>T, p.Arg5Cys

1 disease linked to PCMT1:c.13C>T, p.Arg5Cys

Isolated anencephaly

Found any issues with the data on this page? Report this entry.