Details for NEFH:c.1510_1530del, p.Pro504_Ala510del

CHROMOSOME 22
GENOMIC COORDINATES
hg19hg38
2988513829489149
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NEFH
REFERENCE ALLELE TCCCCCAGCAGAAGAGGCTGCA
ALTERNATE ALLELE T
TRANSCRIPT NM_021076.4
CDNA CHANGE c.1510_1530del
PROTEIN CHANGE p.Pro504_Ala510del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.011443Polymorphism
DBSNP ID NA
1 combination linked to NEFH:c.1510_1530del, p.Pro504_Ala510del OLI1640
1 disease linked to NEFH:c.1510_1530del, p.Pro504_Ala510del Amyotrophic lateral sclerosis
Found any issues with the data on this page? Report this entry.