ClinVar

NM_000821.7(GGCX):c.1217G>A (p.Arg406His)

Gene:

GGCX:gamma-glutamyl carboxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p11.2

Genomic location:

• Chr2: 85553009 (on Assembly GRCh38)
• Chr2: 85780132 (on Assembly GRCh37)

Preferred name:

NM_000821.7(GGCX):c.1217G>A (p.Arg406His)

HGVS:

• NC_000002.12:g.85553009C>T
• NG_011811.2:g.13526G>A
• NM_000821.7:c.1217G>AMANE SELECT
• NM_001142269.4:c.1046G>A
• NP_000812.2:p.Arg406His
• NP_001135741.1:p.Arg349His
• LRG_592t1:c.1217G>A
• LRG_592:g.13526G>A
• LRG_592p1:p.Arg406His
• NC_000002.11:g.85780132C>T
• NM_000821.5:c.1217G>A

This HGVS expression did not pass validation

Protein change:

R349H

Links:

dbSNP: rs139574592

NCBI 1000 Genomes Browser:

rs139574592

Molecular consequence:

• NM_000821.7:c.1217G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142269.4:c.1046G>A - missense variant - [Sequence Ontology: SO:0001583]