ClinVar

NM_001144967.3(NEDD4L):c.97G>A (p.Ala33Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.31

Genomic location:

• Chr18: 58165836 (on Assembly GRCh38)
• Chr18: 55833068 (on Assembly GRCh37)

Preferred name:

NM_001144967.3(NEDD4L):c.97G>A (p.Ala33Thr)

HGVS:

• NC_000018.10:g.58165836G>A
• NG_029954.1:g.126459G>A
• NM_001144964.1:c.-267G>A
• NM_001144965.2:c.-267G>A
• NM_001144967.3:c.97G>AMANE SELECT
• NM_001144968.2:c.73G>A
• NM_001144969.2:c.73G>A
• NM_001144971.2:c.-345G>A
• NM_001243960.2:c.97G>A
• NM_015277.6:c.97G>A
• NP_001138439.1:p.Ala33Thr
• NP_001138440.1:p.Ala25Thr
• NP_001138441.1:p.Ala25Thr
• NP_001230889.1:p.Ala33Thr
• NP_056092.2:p.Ala33Thr
• NC_000018.9:g.55833068G>A
• NM_015277.5:c.97G>A

This HGVS expression did not pass validation

Protein change:

A25T

Links:

dbSNP: rs771098028

NCBI 1000 Genomes Browser:

rs771098028

Molecular consequence:

• NM_001144964.1:c.-267G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001144965.2:c.-267G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001144971.2:c.-345G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001144967.3:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144968.2:c.73G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001144969.2:c.73G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001243960.2:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015277.6:c.97G>A - missense variant - [Sequence Ontology: SO:0001583]