1:17331945-17331945 C > T

Classification

Category 1
CMH MAF 5 / 13144 samples (0.038%)
5 het., 0 hom. (100%)
5 / 26288 total alleles (0.019%)

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

TRNAN-GUU [intron]

gene: ATP13A2 synonym(s): CLN12, HSA9947, KRPPD, PARK9, RP1-37C10.4, ATP13A2, ENSG00000159363

OMIM
OMIM:610513: ATP13A2 (Autosomal recessive inheritance)
OMIM:606693: Kufor-Rakeb syndrome
OMIM:617225: Spastic paraplegia 78, autosomal recessive

NM_022089.2 [CDS]
hgvs_c: NM_022089.2:c.212G>A
reference AA: W
variant AA: *
reference codon: tGg
variant codon: tAg
cDNA pos: 402
CDS pos: 212
translation impact: premature_stop
protein sequence: NP_071372.1
AA pos: 71
hgvs_p: NP_071372.1:p.Trp71Ter
blosum: -4

rs373607247
TOPMED_MAF = 0.00001592762487257

432661
clinvar_significance = Pathogenic

gnomAD Other non-Finnish European, (1 / 30504), 0.00328%