ClinVar

NM_000190.4(HMBS):c.912+1G>C

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119093022 (on Assembly GRCh38)
• Chr11: 118963732 (on Assembly GRCh37)

Preferred name:

NM_000190.4(HMBS):c.912+1G>C

HGVS:

• NC_000011.10:g.119093022G>C
• NG_008093.1:g.13146G>C
• NG_124182.1:g.375G>C
• NM_000190.4:c.912+1G>CMANE SELECT
• NM_001024382.2:c.861+1G>C
• NM_001258208.2:c.792+1G>C
• NM_001258209.2:c.741+1G>C
• LRG_1076t1:c.912+1G>C
• LRG_1076t2:c.861+1G>C
• LRG_1076:g.13146G>C
• NC_000011.9:g.118963732G>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_000190.4:c.912+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001024382.2:c.861+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001258208.2:c.792+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001258209.2:c.741+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1