--- - allele_string: G/A assembly_name: GRCh37 colocated_variants: - allele_string: G/A/T clin_sig: - benign clin_sig_allele: A:benign end: 865545 frequencies: A: af: '0.0028' afr: 0 amr: 0 eas: '0.0129' eur: '0.001' gnomade: '0.0007967' gnomade_afr: 0 gnomade_amr: 0 gnomade_asj: 0 gnomade_eas: '0.008504' gnomade_fin: '0.001086' gnomade_nfe: '9.599e-05' gnomade_oth: '0.0002213' gnomade_sas: '4.264e-05' sas: 0 id: rs201186828 phenotype_or_disease: 1 seq_region_name: 1 start: 865545 strand: 1 var_synonyms: ClinVar: - RCV001510902 - VCV001164676 end: 865545 id: NM_152486.2:c.83G>A input: NM_152486.2:c.83G>A most_severe_consequence: missense_variant seq_region_name: 1 start: 865545 strand: 1 transcript_consequences: - amino_acids: R/Q biotype: protein_coding cdna_end: 1129 cdna_start: 1129 cds_end: 620 cds_start: 620 codons: cGg/cAg consequence_terms: - missense_variant gene_id: 148398 gene_symbol: SAMD11 gene_symbol_source: EntrezGene given_ref: G hgvsc: NM_001385640.1:c.620G>A hgvsp: NP_001372569.1:p.Arg207Gln impact: MODERATE polyphen_prediction: probably_damaging polyphen_score: '0.991' protein_end: 207 protein_start: 207 sift_prediction: deleterious_low_confidence sift_score: 0 strand: 1 transcript_id: NM_001385640.1 used_ref: G variant_allele: A - amino_acids: R/Q biotype: protein_coding cdna_end: 1129 cdna_start: 1129 cds_end: 620 cds_start: 620 codons: cGg/cAg consequence_terms: - missense_variant gene_id: 148398 gene_symbol: SAMD11 gene_symbol_source: EntrezGene given_ref: G hgvsc: NM_001385641.1:c.620G>A hgvsp: NP_001372570.1:p.Arg207Gln impact: MODERATE polyphen_prediction: probably_damaging polyphen_score: '0.991' protein_end: 207 protein_start: 207 sift_prediction: deleterious_low_confidence sift_score: 0 strand: 1 transcript_id: NM_001385641.1 used_ref: G variant_allele: A - amino_acids: R/Q biotype: protein_coding cdna_end: 173 cdna_start: 173 cds_end: 83 cds_start: 83 codons: cGg/cAg consequence_terms: - missense_variant gene_id: 148398 gene_symbol: SAMD11 gene_symbol_source: EntrezGene given_ref: G hgvsc: NM_152486.4:c.83G>A hgvsp: NP_689699.3:p.Arg28Gln impact: MODERATE polyphen_prediction: possibly_damaging polyphen_score: '0.778' protein_end: 28 protein_start: 28 sift_prediction: deleterious sift_score: 0 strand: 1 transcript_id: NM_152486.4 used_ref: G variant_allele: A - biotype: lncRNA consequence_terms: - upstream_gene_variant distance: 4561 gene_id: 107985728 gene_symbol: LOC107985728 gene_symbol_source: EntrezGene given_ref: G impact: MODIFIER strand: -1 transcript_id: NR_168405.1 used_ref: G variant_allele: A