ClinVar

NM_000180.4(GUCY2D):c.341T>C (p.Val114Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8003388 (on Assembly GRCh38)
• Chr17: 7906706 (on Assembly GRCh37)

Preferred name:

NM_000180.4(GUCY2D):c.341T>C (p.Val114Ala)

HGVS:

• NC_000017.11:g.8003388T>C
• NG_009092.1:g.5719T>C
• NM_000180.4:c.341T>CMANE SELECT
• NP_000171.1:p.Val114Ala
• NP_000171.1:p.Val114Ala
• NC_000017.10:g.7906706T>C
• NM_000180.3:c.341T>C

This HGVS expression did not pass validation

Protein change:

V114A

Links:

dbSNP: rs61750198

NCBI 1000 Genomes Browser:

rs61750198

Molecular consequence:

• NM_000180.4:c.341T>C - missense variant - [Sequence Ontology: SO:0001583]