ClinVar

NM_017610.8(RNF111):c.1936A>T (p.Met646Leu)

Gene:

RNF111:ring finger protein 111 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.2

Genomic location:

• Chr15: 59076203 (on Assembly GRCh38)
• Chr15: 59368402 (on Assembly GRCh37)

Preferred name:

NM_017610.8(RNF111):c.1936A>T (p.Met646Leu)

HGVS:

• NC_000015.10:g.59076203A>T
• NM_001270528.2:c.1936A>T
• NM_001270529.2:c.1933A>T
• NM_001270530.2:c.1936A>T
• NM_001330331.2:c.1936A>T
• NM_017610.8:c.1936A>TMANE SELECT
• NP_001257457.1:p.Met646Leu
• NP_001257458.1:p.Met645Leu
• NP_001257459.1:p.Met646Leu
• NP_001317260.1:p.Met646Leu
• NP_060080.6:p.Met646Leu
• NC_000015.9:g.59368402A>T

This HGVS expression did not pass validation

Protein change:

M645L

Molecular consequence:

• NM_001270528.2:c.1936A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270529.2:c.1933A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270530.2:c.1936A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330331.2:c.1936A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017610.8:c.1936A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1