Details for INVS:c.1948G>C, p.Ala650Pro

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
103046765100284483
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE INVS
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_014425.4
CDNA CHANGE c.1948G>C
PROTEIN CHANGE p.Ala650Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00160.00080.00.00.0070.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0039860.00043360.00083910.00.00.022240.0039220.0037570.00049

ESP
AAEA
0.00045390.002442
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging-0.038136Polymorphism
DBSNP ID rs147452898
1 combination linked to INVS:c.1948G>C, p.Ala650Pro OLI214
1 disease linked to INVS:c.1948G>C, p.Ala650Pro Nephronophthisis
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