ClinVar

NM_025000.4(DCAF17):c.52C>A (p.Leu18Met)

Genes:

DCAF17:DDB1 and CUL4 associated factor 17 [Gene - OMIM - HGNC]
METTL8:methyltransferase 8, tRNA N3-cytidine [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.1

Genomic location:

• Chr2: 171434629 (on Assembly GRCh38)
• Chr2: 172291139 (on Assembly GRCh37)

Preferred name:

NM_025000.4(DCAF17):c.52C>A (p.Leu18Met)

HGVS:

• NC_000002.12:g.171434629C>A
• NG_013038.2:g.5379C>A
• NG_097077.1:g.237C>A
• NG_097077.2:g.746C>A
• NM_001164821.2:c.52C>A
• NM_001321157.2:c.8+45G>T
• NM_001321158.2:c.8+45G>T
• NM_001321161.2:c.8+45G>T
• NM_024770.5:c.-13+45G>T
• NM_025000.4:c.52C>AMANE SELECT
• NP_001158293.1:p.Leu18Met
• NP_079276.2:p.Leu18Met
• NC_000002.11:g.172291139C>A
• NM_025000.3:c.52C>A
• NR_028482.2:n.404C>A

This HGVS expression did not pass validation

Protein change:

L18M

Links:

dbSNP: rs1693684988

NCBI 1000 Genomes Browser:

rs1693684988

Molecular consequence:

• NM_001321157.2:c.8+45G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321158.2:c.8+45G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321161.2:c.8+45G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_024770.5:c.-13+45G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001164821.2:c.52C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_025000.4:c.52C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_028482.2:n.404C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]