ClinVar

NM_014688.5(USP6NL):c.1903C>T (p.Pro635Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10p14

Genomic location:

• Chr10: 11463025 (on Assembly GRCh38)
• Chr10: 11505024 (on Assembly GRCh37)

Preferred name:

NM_014688.5(USP6NL):c.1903C>T (p.Pro635Ser)

HGVS:

• NC_000010.11:g.11463025G>A
• NM_001080491.5:c.1954C>T
• NM_001391959.1:c.1972C>T
• NM_001391960.1:c.1756C>T
• NM_001391961.1:c.1750C>T
• NM_014688.5:c.1903C>TMANE SELECT
• NP_001073960.1:p.Pro652Ser
• NP_001378888.1:p.Pro658Ser
• NP_001378889.1:p.Pro586Ser
• NP_001378890.1:p.Pro584Ser
• NP_055503.1:p.Pro635Ser
• NC_000010.10:g.11505024G>A
• NM_001080491.2:c.1954C>T

This HGVS expression did not pass validation

Protein change:

P584S

Molecular consequence:

• NM_001080491.5:c.1954C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001391959.1:c.1972C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001391960.1:c.1756C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001391961.1:c.1750C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014688.5:c.1903C>T - missense variant - [Sequence Ontology: SO:0001583]