ClinVar

NM_000190.4(HMBS):c.688G>T (p.Asp230Tyr)

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119092440 (on Assembly GRCh38)
• Chr11: 118963150 (on Assembly GRCh37)

Preferred name:

NM_000190.4(HMBS):c.688G>T (p.Asp230Tyr)

HGVS:

• NC_000011.10:g.119092440G>T
• NG_008093.1:g.12564G>T
• NM_000190.4:c.688G>TMANE SELECT
• NM_001024382.2:c.637G>T
• NM_001258208.2:c.651+277G>T
• NM_001258209.2:c.600+277G>T
• NP_000181.2:p.Asp230Tyr
• NP_001019553.1:p.Asp213Tyr
• LRG_1076t1:c.688G>T
• LRG_1076t2:c.637G>T
• LRG_1076:g.12564G>T
• LRG_1076p1:p.Asp230Tyr
• LRG_1076p2:p.Asp213Tyr
• NC_000011.9:g.118963150G>T

This HGVS expression did not pass validation

Protein change:

D213Y

Molecular consequence:

• NM_001258208.2:c.651+277G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258209.2:c.600+277G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000190.4:c.688G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001024382.2:c.637G>T - missense variant - [Sequence Ontology: SO:0001583]