ClinVar

NM_014688.5(USP6NL):c.1352G>A (p.Arg451Lys)

Gene:

USP6NL:USP6 N-terminal like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p14

Genomic location:

• Chr10: 11463576 (on Assembly GRCh38)
• Chr10: 11505575 (on Assembly GRCh37)

Preferred name:

NM_014688.5(USP6NL):c.1352G>A (p.Arg451Lys)

HGVS:

• NC_000010.11:g.11463576C>T
• NM_001080491.5:c.1403G>A
• NM_001391959.1:c.1421G>A
• NM_001391960.1:c.1205G>A
• NM_001391961.1:c.1199G>A
• NM_014688.5:c.1352G>AMANE SELECT
• NP_001073960.1:p.Arg468Lys
• NP_001378888.1:p.Arg474Lys
• NP_001378889.1:p.Arg402Lys
• NP_001378890.1:p.Arg400Lys
• NP_055503.1:p.Arg451Lys
• NC_000010.10:g.11505575C>T
• NM_001080491.2:c.1403G>A

This HGVS expression did not pass validation

Protein change:

R400K

Molecular consequence:

• NM_001080491.5:c.1403G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001391959.1:c.1421G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001391960.1:c.1205G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001391961.1:c.1199G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014688.5:c.1352G>A - missense variant - [Sequence Ontology: SO:0001583]