ClinVar

NM_000190.4(HMBS):c.717C>T (p.His239=)

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119092469 (on Assembly GRCh38)
• Chr11: 118963179 (on Assembly GRCh37)

Preferred name:

NM_000190.4(HMBS):c.717C>T (p.His239=)

HGVS:

• NC_000011.10:g.119092469C>T
• NG_008093.1:g.12593C>T
• NM_000190.4:c.717C>TMANE SELECT
• NM_001024382.2:c.666C>T
• NM_001258208.2:c.652-289C>T
• NM_001258209.2:c.601-289C>T
• NP_000181.2:p.His239=
• NP_001019553.1:p.His222=
• LRG_1076t1:c.717C>T
• LRG_1076t2:c.666C>T
• LRG_1076:g.12593C>T
• LRG_1076p1:p.His239=
• LRG_1076p2:p.His222=
• NC_000011.9:g.118963179C>T
• NM_000190.3:c.717C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs114025170

NCBI 1000 Genomes Browser:

rs114025170

Molecular consequence:

• NM_001258208.2:c.652-289C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258209.2:c.601-289C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000190.4:c.717C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001024382.2:c.666C>T - synonymous variant - [Sequence Ontology: SO:0001819]