ClinVar

NM_006269.2(RP1):c.616-6T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q12.1

Genomic location:

• Chr8: 54622111 (on Assembly GRCh38)
• Chr8: 55534671 (on Assembly GRCh37)

Preferred name:

NM_006269.2(RP1):c.616-6T>C

HGVS:

• NC_000008.11:g.54622111T>C
• NG_009840.2:g.11045T>C
• NM_006269.2:c.616-6T>CMANE SELECT
• NC_000008.10:g.55534671T>C
• NG_009840.1:g.11045T>C
• NM_006269.1:c.616-6T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs186571865

NCBI 1000 Genomes Browser:

rs186571865

Molecular consequence:

• NM_006269.2:c.616-6T>C - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1