ClinVar

NM_001012967.3(DDX60L):c.1633C>T (p.Arg545Trp)

Gene:

DDX60L:DExD/H-box 60 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.3

Genomic location:

• Chr4: 168430522 (on Assembly GRCh38)
• Chr4: 169351673 (on Assembly GRCh37)

Preferred name:

NM_001012967.3(DDX60L):c.1633C>T (p.Arg545Trp)

HGVS:

• NC_000004.12:g.168430522G>A
• NG_051576.1:g.54993C>T
• NM_001012967.3:c.1633C>TMANE SELECT
• NM_001291510.2:c.1633C>T
• NM_001345927.2:c.1633C>T
• NM_001378072.1:c.1633C>T
• NP_001012985.2:p.Arg545Trp
• NP_001278439.1:p.Arg545Trp
• NP_001332856.1:p.Arg545Trp
• NP_001365001.1:p.Arg545Trp
• NC_000004.11:g.169351673G>A

This HGVS expression did not pass validation

Protein change:

R545W

Links:

dbSNP: rs201155959

NCBI 1000 Genomes Browser:

rs201155959

Molecular consequence:

• NM_001012967.3:c.1633C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291510.2:c.1633C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001345927.2:c.1633C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378072.1:c.1633C>T - missense variant - [Sequence Ontology: SO:0001583]