Details for ALMS1:c.6699_6702del, p.Lys2234GlnfsTer31

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
7368035573453228
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE ALMS1
REFERENCE ALLELE ATAAA
ALTERNATE ALLELE A
TRANSCRIPT NM_015120.4
CDNA CHANGE c.6699_6702del
PROTEIN CHANGE p.Lys2234GlnfsTer31
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.53168Disease causing
DBSNP ID NA
1 combination linked to ALMS1:c.6699_6702del, p.Lys2234GlnfsTer31 OLI402
1 disease linked to ALMS1:c.6699_6702del, p.Lys2234GlnfsTer31 Non-acquired combined pituitary hormone deficiency
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