ClinVar

NM_001144967.3(NEDD4L):c.1535G>A (p.Arg512Gln)

Gene:

NEDD4L:NEDD4 like E3 ubiquitin protein ligase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.31

Genomic location:

• Chr18: 58343063 (on Assembly GRCh38)
• Chr18: 56010295 (on Assembly GRCh37)

Preferred name:

NM_001144967.3(NEDD4L):c.1535G>A (p.Arg512Gln)

HGVS:

• NC_000018.10:g.58343063G>A
• NG_029954.1:g.303686G>A
• NM_001144964.1:c.1172G>A
• NM_001144965.2:c.1172G>A
• NM_001144966.3:c.1172G>A
• NM_001144967.3:c.1535G>AMANE SELECT
• NM_001144968.2:c.1511G>A
• NM_001144969.2:c.1451G>A
• NM_001144970.3:c.1112G>A
• NM_001144971.2:c.1112G>A
• NM_001243960.2:c.1343G>A
• NM_015277.6:c.1475G>A
• NP_001138436.1:p.Arg391Gln
• NP_001138437.1:p.Arg391Gln
• NP_001138438.1:p.Arg391Gln
• NP_001138439.1:p.Arg512Gln
• NP_001138440.1:p.Arg504Gln
• NP_001138441.1:p.Arg484Gln
• NP_001138442.1:p.Arg371Gln
• NP_001138443.1:p.Arg371Gln
• NP_001230889.1:p.Arg448Gln
• NP_056092.2:p.Arg492Gln
• NC_000018.9:g.56010295G>A
• NM_015277.5:c.1475G>A

This HGVS expression did not pass validation

Protein change:

R371Q

Links:

dbSNP: rs1365042367

NCBI 1000 Genomes Browser:

rs1365042367

Molecular consequence:

• NM_001144964.1:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144965.2:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144966.3:c.1172G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144967.3:c.1535G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144968.2:c.1511G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144969.2:c.1451G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144970.3:c.1112G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144971.2:c.1112G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243960.2:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015277.6:c.1475G>A - missense variant - [Sequence Ontology: SO:0001583]