ClinVar

NM_001372163.1(PRRG3):c.508C>T (p.Arg170Trp)

Gene:

PRRG3:proline rich and Gla domain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 151700845 (on Assembly GRCh38)
• ChrX: 150869317 (on Assembly GRCh37)

Preferred name:

NM_001372163.1(PRRG3):c.508C>T (p.Arg170Trp)

HGVS:

• NC_000023.11:g.151700845C>T
• NG_016589.1:g.10588C>T
• NG_016589.2:g.11240C>T
• NM_001372163.1:c.508C>TMANE SELECT
• NM_001372165.1:c.400C>T
• NM_024082.3:c.508C>T
• NM_024082.4:c.508C>T
• NP_001359092.1:p.Arg170Trp
• NP_001359094.1:p.Arg134Trp
• NP_076987.3:p.Arg170Trp
• NC_000023.10:g.150869317C>T
• NR_033262.2:n.898C>T

This HGVS expression did not pass validation

Protein change:

R134W

Molecular consequence:

• NM_001372163.1:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001372165.1:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024082.4:c.508C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_033262.2:n.898C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1