1:21900176-21900176 A > C

Classification

Category 1
CMH MAF 8 / 14969 samples (0.0534%)
8 het., 0 hom. (100%)
8 / 29938 total alleles (0.0267%)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

gene: ALPL synonym(s): AP-TNAP, APTNAP, HOPS, TNAP, TNSALP, ALPL, ENSG00000162551

OMIM
OMIM:171760: ALPL (Autosomal dominant inheritance,Autosomal recessive inheritance)
OMIM:146300: Hypophosphatasia, adult
OMIM:241510: Hypophosphatasia, childhood
OMIM:241500: Hypophosphatasia, infantile
OMIM:146300: Odontohypophosphatasia

ENST00000374840.3 [CDS]
hgvs_c: ENST00000374840.3:c.881A>C
reference AA: D
variant AA: A
reference codon: gAc
variant codon: gCc
cDNA pos: 1131
CDS pos: 881
translation impact: non_synonymous
protein sequence: ENSP00000363973.3
AA pos: 294
hgvs_p: ENSP00000363973.3:p.Asp294Ala
blosum: -2
SIFT: deleterious (0.01)
PolyPhen2: probably_damaging (1.0)

rs121918002
TOPMED_MAF = 0.00009556574923547

13664
clinvar_significance = Pathogenic
clinvar_disease = Infantile hypophosphatasia
clinvar_disease = Hypophosphatasia
clinvar_disease = Childhood hypophosphatasia
clinvar_disease = Adult hypophosphatasia

EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077

ExAC African, (1 / 10208), 0.0098%
gnomAD African, (4 / 24880), 0.0161%