ClinVar

NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)

Gene:

NLRC4:NLR family CARD domain containing 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.3

Genomic location:

• Chr2: 32250314 (on Assembly GRCh38)
• Chr2: 32475383 (on Assembly GRCh37)

Preferred name:

NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)

HGVS:

• NC_000002.12:g.32250314C>G
• NG_041780.1:g.20430G>C
• NM_001199138.2:c.1550G>CMANE SELECT
• NM_001199139.1:c.1550G>C
• NM_001302504.1:c.262+2105G>C
• NM_021209.4:c.1550G>C
• NP_001186067.1:p.Cys517Ser
• NP_001186068.1:p.Cys517Ser
• NP_067032.3:p.Cys517Ser
• LRG_1317t1:c.1550G>C
• LRG_1317:g.20430G>C
• LRG_1317p1:p.Cys517Ser
• NC_000002.11:g.32475383C>G

This HGVS expression did not pass validation

Protein change:

C517S

Links:

dbSNP: rs779390608

NCBI 1000 Genomes Browser:

rs779390608

Molecular consequence:

• NM_001302504.1:c.262+2105G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199138.2:c.1550G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199139.1:c.1550G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_021209.4:c.1550G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1