ClinVar

NM_000190.4(HMBS):c.613-19C>A

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119092106 (on Assembly GRCh38)
• Chr11: 118962816 (on Assembly GRCh37)

Preferred name:

NM_000190.4(HMBS):c.613-19C>A

HGVS:

• NC_000011.10:g.119092106C>A
• NG_008093.1:g.12230C>A
• NM_000190.4:c.613-19C>AMANE SELECT
• NM_001024382.2:c.562-19C>A
• NM_001258208.2:c.613-19C>A
• NM_001258209.2:c.562-19C>A
• LRG_1076t1:c.613-19C>A
• LRG_1076t2:c.562-19C>A
• LRG_1076:g.12230C>A
• NC_000011.9:g.118962816C>A
• NM_000190.3:c.613-19C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1784304

NCBI 1000 Genomes Browser:

rs1784304

Molecular consequence:

• NM_000190.4:c.613-19C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001024382.2:c.562-19C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258208.2:c.613-19C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258209.2:c.562-19C>A - intron variant - [Sequence Ontology: SO:0001627]