ClinVar

NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)

Gene:

AFG3L2:AFG3 like matrix AAA peptidase subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.21

Genomic location:

• Chr18: 12337519 (on Assembly GRCh38)
• Chr18: 12337518 (on Assembly GRCh37)

Preferred name:

NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)

HGVS:

• NC_000018.10:g.12337519A>G
• NG_023361.1:g.44758T>C
• NM_006796.3:c.1997T>CMANE SELECT
• NP_006787.2:p.Met666Thr
• NP_006787.2:p.Met666Thr
• LRG_666t1:c.1997T>C
• LRG_666:g.44758T>C
• LRG_666p1:p.Met666Thr
• NC_000018.9:g.12337518A>G
• NM_006796.2:c.1997T>C
• Q9Y4W6:p.Met666Thr

This HGVS expression did not pass validation

Protein change:

M666T

Links:

UniProtKB: Q9Y4W6#VAR_064404; dbSNP: rs151344515

NCBI 1000 Genomes Browser:

rs151344515

Molecular consequence:

• NM_006796.3:c.1997T>C - missense variant - [Sequence Ontology: SO:0001583]