ClinVar

NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)

Gene:

RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.2

Genomic location:

• Chr16: 53656568 (on Assembly GRCh38)
• Chr16: 53690480 (on Assembly GRCh37)

Preferred name:

NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)

HGVS:

• NC_000016.10:g.53656568G>A
• NG_008991.2:g.52292C>T
• NM_001127897.4:c.1603C>T
• NM_001308334.3:c.1603C>T
• NM_001330538.2:c.1603C>T
• NM_015272.5:c.1603C>TMANE SELECT
• NP_001121369.1:p.Arg535Cys
• NP_001295263.1:p.Arg535Cys
• NP_001317467.1:p.Arg535Cys
• NP_056087.2:p.Arg535Cys
• LRG_696t1:c.1603C>T
• LRG_696t2:c.1603C>T
• LRG_696:g.52292C>T
• LRG_696p1:p.Arg535Cys
• LRG_696p2:p.Arg535Cys
• NC_000016.9:g.53690480G>A
• NC_000016.9:g.53690480G>A
• NM_015272.2:c.1603C>T
• NM_015272.4:c.1603C>T

This HGVS expression did not pass validation

Protein change:

R535C

Links:

dbSNP: rs149781516

NCBI 1000 Genomes Browser:

rs149781516

Molecular consequence:

• NM_001127897.4:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308334.3:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330538.2:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015272.5:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]