ClinVar

NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly)

Gene:

NYX:nyctalopin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

• ChrX: 41474670 (on Assembly GRCh38)
• ChrX: 41333923 (on Assembly GRCh37)

Preferred name:

NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly)

HGVS:

• NC_000023.11:g.41474670C>G
• NG_009112.1:g.32211C>G
• NM_001378477.3:c.1202C>GMANE SELECT
• NM_022567.3:c.1202C>G
• NP_001365406.2:p.Ala401Gly
• NP_072089.1:p.Ala406Gly
• NP_072089.2:p.Ala401Gly
• NC_000023.10:g.41333923C>G
• NM_022567.2:c.1217C>G
• Q9GZU5:p.Ala406Gly

This HGVS expression did not pass validation

Protein change:

A401G

Links:

UniProtKB: Q9GZU5#VAR_052020; dbSNP: rs34169326

NCBI 1000 Genomes Browser:

rs34169326

Molecular consequence:

• NM_001378477.3:c.1202C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_022567.3:c.1202C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2