ClinVar

NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119092491 (on Assembly GRCh38)
• Chr11: 118963201 (on Assembly GRCh37)

Preferred name:

NM_000190.4(HMBS):c.739T>C (p.Cys247Arg)

HGVS:

• NC_000011.10:g.119092491T>C
• NG_008093.1:g.12615T>C
• NM_000190.4:c.739T>CMANE SELECT
• NM_001024382.2:c.688T>C
• NM_001258208.2:c.652-267T>C
• NM_001258209.2:c.601-267T>C
• NP_000181.2:p.Cys247Arg
• NP_001019553.1:p.Cys230Arg
• LRG_1076t1:c.739T>C
• LRG_1076t2:c.688T>C
• LRG_1076:g.12615T>C
• LRG_1076p1:p.Cys247Arg
• LRG_1076p2:p.Cys230Arg
• NC_000011.9:g.118963201T>C
• NM_000190.3:c.739T>C
• P08397:p.Cys247Arg

This HGVS expression did not pass validation

Protein change:

C230R; CYS247ARG

Links:

UniProtKB: P08397#VAR_003664; OMIM: 609806.0029; dbSNP: rs118204111

NCBI 1000 Genomes Browser:

rs118204111

Molecular consequence:

• NM_001258208.2:c.652-267T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258209.2:c.601-267T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000190.4:c.739T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024382.2:c.688T>C - missense variant - [Sequence Ontology: SO:0001583]