1:235564868-235564879 GGGAGCCACGAA > -

Classification

Category 1
CMH MAF 2 / 14969 samples (0.0134%)
0 het., 2 hom. (0%)
4 / 29938 total alleles (0.0134%)

gene: TBCE synonym(s): HRD, KCS, KCS1, pac2, TBCE, ENSG00000116957

OMIM
OMIM:604934: TBCE
OMIM:617207: Encephalopathy, progressive, with amyotrophy and optic atrophy
OMIM:241410: Hypoparathyroidism-retardation-dysmorphism syndrome
OMIM:244460: Kenny-Caffey syndrome, type 1

NM_003193.3 [CDS]
hgvs_c: NM_003193.3:c.155_166del
reference AA: GSHE
variant AA: -
reference codon: GGGAGCCACGAA
variant codon: -
cDNA pos: 274
CDS pos: 151
translation impact: in_frame_indel
protein sequence: NP_003184.1
AA pos: 51
hgvs_p: NP_003184.1:p.Ser52_Gly55del
blosum: 0

5290
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Kenny-Caffey syndrome type 1
clinvar_disease = Hypoparathyroidism retardation dysmorphism syndrome

gnomAD Other, (1 / 6140), 0.0163%