ClinVar

NM_001144967.3(NEDD4L):c.122+17T>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.31

Genomic location:

• Chr18: 58165878 (on Assembly GRCh38)
• Chr18: 55833110 (on Assembly GRCh37)

Preferred name:

NM_001144967.3(NEDD4L):c.122+17T>A

HGVS:

• NC_000018.10:g.58165878T>A
• NG_029954.1:g.126501T>A
• NM_001144964.1:c.-242+17T>A
• NM_001144965.2:c.-242+17T>A
• NM_001144967.3:c.122+17T>AMANE SELECT
• NM_001144968.2:c.98+17T>A
• NM_001144969.2:c.98+17T>A
• NM_001144971.2:c.-320+17T>A
• NM_001243960.2:c.122+17T>A
• NM_015277.6:c.122+17T>A
• NC_000018.9:g.55833110T>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001144964.1:c.-242+17T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144965.2:c.-242+17T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144967.3:c.122+17T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144968.2:c.98+17T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144969.2:c.98+17T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001144971.2:c.-320+17T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243960.2:c.122+17T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_015277.6:c.122+17T>A - intron variant - [Sequence Ontology: SO:0001627]