ClinVar

NM_000180.4(GUCY2D):c.3106C>T (p.Gln1036Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8015989 (on Assembly GRCh38)
• Chr17: 7919307 (on Assembly GRCh37)

Preferred name:

NM_000180.4(GUCY2D):c.3106C>T (p.Gln1036Ter)

HGVS:

• NC_000017.11:g.8015989C>T
• NG_009092.1:g.18320C>T
• NM_000180.4:c.3106C>TMANE SELECT
• NP_000171.1:p.Gln1036Ter
• NP_000171.1:p.Gln1036Ter
• NC_000017.10:g.7919307C>T
• NM_000180.3:c.3106C>T

This HGVS expression did not pass validation

Protein change:

Q1036*

Links:

dbSNP: rs61750192

NCBI 1000 Genomes Browser:

rs61750192

Molecular consequence:

• NM_000180.4:c.3106C>T - nonsense - [Sequence Ontology: SO:0001587]