ClinVar

NM_000180.4(GUCY2D):c.2080C>A (p.Gln694Lys)

Gene:

GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8012573 (on Assembly GRCh38)
• Chr17: 7915891 (on Assembly GRCh37)

Preferred name:

NM_000180.4(GUCY2D):c.2080C>A (p.Gln694Lys)

HGVS:

• NC_000017.11:g.8012573C>A
• NG_009092.1:g.14904C>A
• NM_000180.4:c.2080C>AMANE SELECT
• NP_000171.1:p.Gln694Lys
• NP_000171.1:p.Gln694Lys
• NC_000017.10:g.7915891C>A
• NM_000180.3:c.2080C>A

This HGVS expression did not pass validation

Protein change:

Q694K

Links:

dbSNP: rs61750164

NCBI 1000 Genomes Browser:

rs61750164

Molecular consequence:

• NM_000180.4:c.2080C>A - missense variant - [Sequence Ontology: SO:0001583]