Details for NRL:c.425T>C, p.Val142Ala

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2455073424081525
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NRL
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.425T>C
PROTEIN CHANGE p.Val142Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.728e-050.00.00.00.00.00.00.00.0002113

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.857856Disease causing
DBSNP ID NA
1 combination linked to NRL:c.425T>C, p.Val142Ala OLI1668
1 disease linked to NRL:c.425T>C, p.Val142Ala Bardet-Biedl syndrome
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