ClinVar

NM_145117.5(NAV2):c.3800C>T (p.Ser1267Leu)

Genes:

NAV2-AS2:NAV2 antisense RNA 2 [Gene - HGNC]
NAV2:neuron navigator 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.1

Genomic location:

• Chr11: 20045568 (on Assembly GRCh38)
• Chr11: 20067114 (on Assembly GRCh37)

Preferred name:

NM_145117.5(NAV2):c.3800C>T (p.Ser1267Leu)

HGVS:

• NC_000011.10:g.20045568C>T
• NG_030347.2:g.705334C>T
• NM_001111018.2:c.3608C>T
• NM_001111019.3:c.1058C>T
• NM_001244963.2:c.3869C>T
• NM_145117.5:c.3800C>TMANE SELECT
• NM_182964.6:c.3800C>T
• NP_001104488.1:p.Ser1203Leu
• NP_001104489.1:p.Ser353Leu
• NP_001231892.1:p.Ser1290Leu
• NP_660093.2:p.Ser1267Leu
• NP_892009.3:p.Ser1267Leu
• NC_000011.9:g.20067114C>T
• NG_030347.1:g.699844C>T
• NM_145117.4:c.3800C>T

This HGVS expression did not pass validation

Protein change:

S1203L

Molecular consequence:

• NM_001111018.2:c.3608C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001111019.3:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244963.2:c.3869C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_145117.5:c.3800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_182964.6:c.3800C>T - missense variant - [Sequence Ontology: SO:0001583]