ClinVar

NM_001321075.3(DLG4):c.1478G>C (p.Arg493Pro)

Gene:

DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7194319 (on Assembly GRCh38)
• Chr17: 7097638 (on Assembly GRCh37)

Preferred name:

NM_001321075.3(DLG4):c.1478G>C (p.Arg493Pro)

HGVS:

• NC_000017.11:g.7194319C>G
• NG_008391.2:g.30732G>C
• NG_008391.3:g.30731G>C
• NM_001128827.4:c.1469G>C
• NM_001321074.1:c.1598G>C
• NM_001321075.3:c.1478G>CMANE SELECT
• NM_001321076.3:c.1298G>C
• NM_001321077.3:c.1298G>C
• NM_001365.5:c.1607G>C
• NM_001369566.3:c.1397G>C
• NP_001122299.1:p.Arg490Pro
• NP_001308003.1:p.Arg533Pro
• NP_001308004.1:p.Arg493Pro
• NP_001308005.1:p.Arg433Pro
• NP_001308006.1:p.Arg433Pro
• NP_001356.1:p.Arg536Pro
• NP_001356.1:p.Arg536Pro
• NP_001356495.1:p.Arg466Pro
• NC_000017.10:g.7097638C>G
• NM_001365.3:c.1607G>C
• NM_001365.4:c.1607G>C
• NR_135527.1:n.2808G>C

This HGVS expression did not pass validation

Protein change:

R433P

Links:

dbSNP: rs2142830500

NCBI 1000 Genomes Browser:

rs2142830500

Molecular consequence:

• NM_001128827.4:c.1469G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321074.1:c.1598G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321075.3:c.1478G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321076.3:c.1298G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321077.3:c.1298G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365.5:c.1607G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369566.3:c.1397G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_135527.1:n.2808G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]