ClinVar

NM_000190.4(HMBS):c.163G>T (p.Ala55Ser)

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119089084 (on Assembly GRCh38)
• Chr11: 118959794 (on Assembly GRCh37)

Preferred name:

NM_000190.4(HMBS):c.163G>T (p.Ala55Ser)

HGVS:

• NC_000011.10:g.119089084G>T
• NG_008093.1:g.9208G>T
• NM_000190.4:c.163G>TMANE SELECT
• NM_001024382.2:c.112G>T
• NM_001258208.2:c.163G>T
• NM_001258209.2:c.112G>T
• NP_000181.2:p.Ala55Ser
• NP_001019553.1:p.Ala38Ser
• NP_001245137.1:p.Ala55Ser
• NP_001245138.1:p.Ala38Ser
• LRG_1076t1:c.163G>T
• LRG_1076t2:c.112G>T
• LRG_1076:g.9208G>T
• LRG_1076p1:p.Ala55Ser
• LRG_1076p2:p.Ala38Ser
• NC_000011.9:g.118959794G>T
• NM_000190.3:c.163G>T
• P08397:p.Ala55Ser

This HGVS expression did not pass validation

Protein change:

A38S; ALA55SER

Links:

UniProtKB: P08397#VAR_003642; OMIM: 609806.0018; dbSNP: rs118204106

NCBI 1000 Genomes Browser:

rs118204106

Molecular consequence:

• NM_000190.4:c.163G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024382.2:c.112G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258208.2:c.163G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258209.2:c.112G>T - missense variant - [Sequence Ontology: SO:0001583]