Details for COL4A4:c.3452G>C, p.Gly1151Ala

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
227906917227042201
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE COL4A4
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_000092.4
CDNA CHANGE c.3452G>C
PROTEIN CHANGE p.Gly1151Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.009e-050.00.00.00.00.08.836e-050.00.0

ESP
AAEA
0.00.0002441
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.762175Disease causing
DBSNP ID rs371803356
1 combination linked to COL4A4:c.3452G>C, p.Gly1151Ala OLI377
1 disease linked to COL4A4:c.3452G>C, p.Gly1151Ala Alport syndrome
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