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 INVS:c.725C>T, p.Ser242Leu

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
103002451	100240169

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.725C>T

PROTEIN CHANGE

p.Ser242Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0034	0.0	0.0101	0.0	0.0099	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004665	0.0008612	0.003556	0.0002976	0.0	0.01238	0.006357	0.005708	0.0002287

ESP
AA	EA
0.001362	0.006047

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.171235	Polymorphism

DBSNP ID

3 combinations linked to INVS:c.725C>T, p.Ser242Leu

OLI691; OLI736; OLI761

2 diseases linked to INVS:c.725C>T, p.Ser242Leu

Isolated anencephaly; Craniorachischisis

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