ClinVar

NM_000190.4(HMBS):c.30G>A (p.Thr10=)

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119085063 (on Assembly GRCh38)
• Chr11: 118955773 (on Assembly GRCh37)

Preferred name:

NM_000190.4(HMBS):c.30G>A (p.Thr10=)

HGVS:

• NC_000011.10:g.119085063G>A
• NG_008093.1:g.5187G>A
• NM_000190.4:c.30G>AMANE SELECT
• NM_001258208.2:c.30G>A
• NM_001258209.2:c.-113G>A
• NP_000181.2:p.Thr10=
• NP_001245137.1:p.Thr10=
• LRG_1076t1:c.30G>A
• LRG_1076:g.5187G>A
• LRG_1076p1:p.Thr10=
• NC_000011.9:g.118955773G>A
• NC_000011.9:g.118955773G>A
• NM_000190.3:c.30G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs782243560

NCBI 1000 Genomes Browser:

rs782243560

Molecular consequence:

• NM_001258209.2:c.-113G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000190.4:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258208.2:c.30G>A - synonymous variant - [Sequence Ontology: SO:0001819]