Details for ABCA7:c.4045C>T, p.Arg1349Trp

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
10551901055191
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ABCA7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_019112.3
CDNA CHANGE c.4045C>T
PROTEIN CHANGE p.Arg1349Trp
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.234e-050.00019580.00.00.00.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.671334Disease causing
DBSNP ID rs769101205
1 combination linked to ABCA7:c.4045C>T, p.Arg1349Trp OLI799
1 disease linked to ABCA7:c.4045C>T, p.Arg1349Trp Arthrogryposis syndrome
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