ClinVar

NM_024063.3(AFG2B):c.1976T>C (p.Leu659Pro)

Gene:

AFG2B:AFG2 AAA ATPase homolog B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

• Chr15: 45418564 (on Assembly GRCh38)
• Chr15: 45710762 (on Assembly GRCh37)

Preferred name:

NM_024063.3(AFG2B):c.1976T>C (p.Leu659Pro)

HGVS:

• NC_000015.10:g.45418564T>C
• NM_024063.3:c.1976T>CMANE SELECT
• NP_076968.2:p.Leu659Pro
• NC_000015.9:g.45710762T>C
• NR_027635.2:n.2100T>C
• NR_136645.2:n.2077T>C
• NR_136646.2:n.2295T>C
• NR_136647.2:n.2262T>C
• NR_136648.2:n.2265T>C

This HGVS expression did not pass validation

Protein change:

L659P

Molecular consequence:

• NM_024063.3:c.1976T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_027635.2:n.2100T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136645.2:n.2077T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136646.2:n.2295T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136647.2:n.2262T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136648.2:n.2265T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]