ClinVar

NM_173550.4(CCDC171):c.2404C>T (p.Arg802Trp)

Gene:

CCDC171:coiled-coil domain containing 171 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9p22.3

Genomic location:

• Chr9: 15744627 (on Assembly GRCh38)
• Chr9: 15744625 (on Assembly GRCh37)

Preferred name:

NM_173550.4(CCDC171):c.2404C>T (p.Arg802Trp)

HGVS:

• NC_000009.12:g.15744627C>T
• NG_052634.1:g.196754C>T
• NM_001348002.2:c.2149C>T
• NM_001355547.1:c.2428C>T
• NM_173550.4:c.2404C>TMANE SELECT
• NP_001334931.1:p.Arg717Trp
• NP_001342476.1:p.Arg810Trp
• NP_775821.2:p.Arg802Trp
• NC_000009.11:g.15744625C>T
• NM_173550.2:c.2404C>T

This HGVS expression did not pass validation

Protein change:

R717W

Links:

dbSNP: rs193920965

NCBI 1000 Genomes Browser:

rs193920965

Molecular consequence:

• NM_001348002.2:c.2149C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001355547.1:c.2428C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173550.4:c.2404C>T - missense variant - [Sequence Ontology: SO:0001583]