ClinVar

NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp)

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119093260 (on Assembly GRCh38)
• Chr11: 118963970 (on Assembly GRCh37)

Preferred name:

NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp)

HGVS:

• NC_000011.10:g.119093260C>T
• NG_008093.1:g.13384C>T
• NM_000190.4:c.1063C>TMANE SELECT
• NM_001024382.2:c.1012C>T
• NM_001258208.2:c.943C>T
• NM_001258209.2:c.892C>T
• NP_000181.2:p.Arg355Trp
• NP_001019553.1:p.Arg338Trp
• NP_001245137.1:p.Arg315Trp
• NP_001245138.1:p.Arg298Trp
• LRG_1076t1:c.1063C>T
• LRG_1076t2:c.1012C>T
• LRG_1076:g.13384C>T
• LRG_1076p1:p.Arg355Trp
• LRG_1076p2:p.Arg338Trp
• NC_000011.9:g.118963970C>T

This HGVS expression did not pass validation

Protein change:

R298W

Links:

dbSNP: rs769409620

NCBI 1000 Genomes Browser:

rs769409620

Molecular consequence:

• NM_000190.4:c.1063C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024382.2:c.1012C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258208.2:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258209.2:c.892C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1