ClinVar

NM_005807.6(PRG4):c.538C>T (p.Arg180Trp)

Gene:

PRG4:proteoglycan 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.1

Genomic location:

• Chr1: 186304862 (on Assembly GRCh38)
• Chr1: 186273994 (on Assembly GRCh37)

Preferred name:

NM_005807.6(PRG4):c.538C>T (p.Arg180Trp)

HGVS:

• NC_000001.11:g.186304862C>T
• NG_008248.2:g.13577C>T
• NM_001127708.3:c.415C>T
• NM_001127709.3:c.320-1456C>T
• NM_001127710.3:c.197-1456C>T
• NM_001303232.2:c.469+605C>T
• NM_005807.6:c.538C>TMANE SELECT
• NP_001121180.2:p.Arg139Trp
• NP_005798.3:p.Arg180Trp
• NC_000001.10:g.186273994C>T
• NM_005807.4:c.538C>T

This HGVS expression did not pass validation

Protein change:

R139W

Links:

dbSNP: rs2273779

NCBI 1000 Genomes Browser:

rs2273779

Molecular consequence:

• NM_001127709.3:c.320-1456C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127710.3:c.197-1456C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001303232.2:c.469+605C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001127708.3:c.415C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005807.6:c.538C>T - missense variant - [Sequence Ontology: SO:0001583]