ClinVar

NM_001145108.2(NELL2):c.644A>T (p.Gln215Leu)

Gene:

NELL2:neural EGFL like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q12

Genomic location:

• Chr12: 44777277 (on Assembly GRCh38)
• Chr12: 45171060 (on Assembly GRCh37)

Preferred name:

NM_001145108.2(NELL2):c.644A>T (p.Gln215Leu)

HGVS:

• NC_000012.12:g.44777277T>A
• NM_001145107.2:c.794A>T
• NM_001145108.2:c.644A>TMANE SELECT
• NM_001145109.2:c.641A>T
• NM_001145110.2:c.713A>T
• NM_006159.2:c.644A>T
• NP_001138579.1:p.Gln265Leu
• NP_001138580.1:p.Gln215Leu
• NP_001138581.1:p.Gln214Leu
• NP_001138582.1:p.Gln238Leu
• NP_006150.1:p.Gln215Leu
• NC_000012.11:g.45171060T>A
• NM_001145107.1:c.794A>T

This HGVS expression did not pass validation

Protein change:

Q214L

Molecular consequence:

• NM_001145107.2:c.794A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145108.2:c.644A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145109.2:c.641A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145110.2:c.713A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006159.2:c.644A>T - missense variant - [Sequence Ontology: SO:0001583]