ClinVar

NM_006269.2(RP1):c.3740C>T (p.Pro1247Leu)

Gene:

RP1:RP1 axonemal microtubule associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.1

Genomic location:

• Chr8: 54627622 (on Assembly GRCh38)
• Chr8: 55540182 (on Assembly GRCh37)

Preferred name:

NM_006269.2(RP1):c.3740C>T (p.Pro1247Leu)

HGVS:

• NC_000008.11:g.54627622C>T
• NG_009840.2:g.16556C>T
• NG_009840.3:g.73439C>T
• NM_001375654.1:c.787+5334C>T
• NM_006269.2:c.3740C>TMANE SELECT
• NP_006260.1:p.Pro1247Leu
• NC_000008.10:g.55540182C>T

This HGVS expression did not pass validation

Protein change:

P1247L

Molecular consequence:

• NM_001375654.1:c.787+5334C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006269.2:c.3740C>T - missense variant - [Sequence Ontology: SO:0001583]