ClinVar

NM_000243.3(MEFV):c.983T>C (p.Val328Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3249708 (on Assembly GRCh38)
• Chr16: 3299708 (on Assembly GRCh37)

Preferred name:

NM_000243.3(MEFV):c.983T>C (p.Val328Ala)

HGVS:

• NC_000016.10:g.3249708A>G
• NG_007871.1:g.11920T>C
• NM_000243.3:c.983T>CMANE SELECT
• NM_001198536.2:c.350T>C
• NP_000234.1:p.Val328Ala
• NP_001185465.2:p.Val117Ala
• LRG_190:g.11920T>C
• NC_000016.9:g.3299708A>G
• NM_000243.1:c.983T>C

This HGVS expression did not pass validation

Protein change:

V117A

Links:

dbSNP: rs104895203

NCBI 1000 Genomes Browser:

rs104895203

Molecular consequence:

• NM_000243.3:c.983T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198536.2:c.350T>C - missense variant - [Sequence Ontology: SO:0001583]