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 GALNT14:c.472G>A, p.Asp158Asn

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
31178838	30955972

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.472G>A

PROTEIN CHANGE

p.Asp158Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0014	0.0	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0008271	0.0003691	0.0005493	0.002084	0.0	0.0	0.001257	0.00114	0.000392

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.44211	Disease causing

DBSNP ID

1 combination linked to GALNT14:c.472G>A, p.Asp158Asn

1 disease linked to GALNT14:c.472G>A, p.Asp158Asn

Non-Syndromic genetic keratoconus

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