16:51173418-51173421 CACT > -

Classification

Category 2

frameshift

CMH MAF

2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

Genes

Consequences
gene: SALL1 synonym(s): HSAL1, Sal-1, TBS, ZNF794, SALL1, ENSG00000103449

NM_001127892.1 [CDS]
hgvs_c: NM_001127892.1:c.2421_2424del
reference AA: SV
variant AA: X
reference codon: tcAGTG
variant codon: tc
cDNA pos: 2853
CDS pos: 2421
translation impact: frameshift
protein sequence: NP_001121364.1
AA pos: 807
hgvs_p: NP_001121364.1:p.Gly809ValfsTer59
blosum: 0

NM_002968.2 [CDS] Reportable
hgvs_c: NM_002968.2:c.2712_2715del
reference AA: SV
variant AA: X
reference codon: tcAGTG
variant codon: tc
cDNA pos: 2743
CDS pos: 2712
translation impact: frameshift
protein sequence: NP_002959.2
AA pos: 904
hgvs_p: NP_002959.2:p.Gly906ValfsTer59
blosum: 0

Export Variant

Curation

Likely pathogenic