ClinVar

NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=)

Gene:

PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.2

Genomic location:

• Chr2: 29070971 (on Assembly GRCh38)
• Chr2: 29293837 (on Assembly GRCh37)

Preferred name:

NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=)

HGVS:

• NC_000002.12:g.29070971C>T
• NG_021427.1:g.8291G>A
• NM_001029883.3:c.3291G>AMANE SELECT
• NP_001025054.1:p.Gln1097=
• NC_000002.11:g.29293837C>T
• NM_001029883.2:c.3291G>A
• NP_001025054.1:p.(=)

This HGVS expression did not pass validation

Links:

dbSNP: rs183536545

NCBI 1000 Genomes Browser:

rs183536545

Molecular consequence:

• NM_001029883.3:c.3291G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3