ClinVar

NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3248913 (on Assembly GRCh38)
• Chr16: 3298913 (on Assembly GRCh37)

Preferred name:

NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)

HGVS:

• NC_000016.10:g.3248913A>C
• NG_007871.1:g.12715T>G
• NM_000243.3:c.1352T>GMANE SELECT
• NM_001198536.2:c.719T>G
• NP_000234.1:p.Phe451Cys
• NP_001185465.2:p.Phe240Cys
• LRG_190t1:c.1352T>G
• LRG_190:g.12715T>G
• NC_000016.9:g.3298913A>C
• NC_000016.9:g.3298913A>C
• NM_000243.2:c.1352T>G

This HGVS expression did not pass validation

Protein change:

F240C

Links:

dbSNP: rs1958986915

NCBI 1000 Genomes Browser:

rs1958986915

Molecular consequence:

• NM_000243.3:c.1352T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198536.2:c.719T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1