ClinVar

NM_000190.4(HMBS):c.648C>T (p.Gly216=)

Gene:

HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119092160 (on Assembly GRCh38)
• Chr11: 118962870 (on Assembly GRCh37)

Preferred name:

NM_000190.4(HMBS):c.648C>T (p.Gly216=)

HGVS:

• NC_000011.10:g.119092160C>T
• NG_008093.1:g.12284C>T
• NM_000190.4:c.648C>TMANE SELECT
• NM_001024382.2:c.597C>T
• NM_001258208.2:c.648C>T
• NM_001258209.2:c.597C>T
• NP_000181.2:p.Gly216=
• NP_001019553.1:p.Gly199=
• NP_001245137.1:p.Gly216=
• NP_001245138.1:p.Gly199=
• LRG_1076t1:c.648C>T
• LRG_1076t2:c.597C>T
• LRG_1076:g.12284C>T
• LRG_1076p1:p.Gly216=
• LRG_1076p2:p.Gly199=
• NC_000011.9:g.118962870C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs968354607

NCBI 1000 Genomes Browser:

rs968354607

Molecular consequence:

• NM_000190.4:c.648C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001024382.2:c.597C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258208.2:c.648C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001258209.2:c.597C>T - synonymous variant - [Sequence Ontology: SO:0001819]