ClinVar

NM_000243.3(MEFV):c.332G>A (p.Gly111Glu)

Gene:

MEFV:MEFV innate immuity regulator, pyrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3254736 (on Assembly GRCh38)
• Chr16: 3304736 (on Assembly GRCh37)

Preferred name:

NM_000243.3(MEFV):c.332G>A (p.Gly111Glu)

Other names:

MEFV

HGVS:

• NC_000016.10:g.3254736C>T
• NG_007871.1:g.6892G>A
• NM_000243.3:c.332G>AMANE SELECT
• NM_001198536.2:c.277+1575G>A
• NP_000234.1:p.Gly111Glu
• NP_000234.1:p.Gly111Glu
• LRG_190t1:c.332G>A
• LRG_190:g.6892G>A
• LRG_190p1:p.Gly111Glu
• NC_000016.9:g.3304736C>T
• NM_000243.2:c.332G>A

This HGVS expression did not pass validation

Protein change:

G111E

Links:

dbSNP: rs751454741

NCBI 1000 Genomes Browser:

rs751454741

Molecular consequence:

• NM_001198536.2:c.277+1575G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000243.3:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]