ClinVar

NM_020366.4(RPGRIP1):c.2760dup (p.Val921fs)

Gene:

RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21327670 - 21327671 (on Assembly GRCh38)
• Chr14: 21795829 - 21795830 (on Assembly GRCh37)

Preferred name:

NM_020366.4(RPGRIP1):c.2760dup (p.Val921fs)

HGVS:

• NC_000014.9:g.21327672dup
• NG_008933.1:g.44696dup
• NM_001377523.1:c.738dup
• NM_001377948.1:c.1686dup
• NM_001377949.1:c.846dup
• NM_001377950.1:c.738dup
• NM_001377951.1:c.240dup
• NM_020366.4:c.2760dupMANE SELECT
• NP_001364452.1:p.Val247fs
• NP_001364877.1:p.Val563fs
• NP_001364878.1:p.Val283fs
• NP_001364879.1:p.Val247fs
• NP_001364880.1:p.Val81fs
• NP_065099.3:p.Val921fs
• NC_000014.8:g.21795831dup
• NM_020366.3:c.2759dupA

This HGVS expression did not pass validation

Protein change:

V247fs

Links:

dbSNP: rs1555302659

NCBI 1000 Genomes Browser:

rs1555302659

Molecular consequence:

• NM_001377523.1:c.738dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001377948.1:c.1686dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001377949.1:c.846dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001377950.1:c.738dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001377951.1:c.240dup - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_020366.4:c.2760dup - frameshift variant - [Sequence Ontology: SO:0001589]