ClinVar

NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)

Genes:

LOC126862264:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 [Gene]
MEFV:MEFV innate immunity regulator, pyrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3243338 (on Assembly GRCh38)
• Chr16: 3293338 (on Assembly GRCh37)

Preferred name:

NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)

HGVS:

• NC_000016.10:g.3243338G>A
• NG_007871.1:g.18290C>T
• NM_000243.3:c.2149C>TMANE SELECT
• NM_001198536.2:c.*353C>T
• NP_000234.1:p.Arg717Cys
• NP_000234.1:p.Arg717Cys
• LRG_190t1:c.2149C>T
• LRG_190:g.18290C>T
• LRG_190p1:p.Arg717Cys
• NC_000016.9:g.3293338G>A
• NM_000243.2:c.2149C>T

This HGVS expression did not pass validation

Protein change:

R717C

Links:

dbSNP: rs104895192

NCBI 1000 Genomes Browser:

rs104895192

Molecular consequence:

• NM_001198536.2:c.*353C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000243.3:c.2149C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1