ClinVar

NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)

Gene:

RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.2

Genomic location:

• Chr16: 53619193 (on Assembly GRCh38)
• Chr16: 53653105 (on Assembly GRCh37)

Preferred name:

NM_015272.5(RPGRIP1L):c.3448C>T (p.Arg1150Trp)

HGVS:

• NC_000016.10:g.53619193G>A
• NG_008991.2:g.89667C>T
• NM_001127897.4:c.3208C>T
• NM_001308334.3:c.3310C>T
• NM_001330538.2:c.3346C>T
• NM_015272.5:c.3448C>TMANE SELECT
• NP_001121369.1:p.Arg1070Trp
• NP_001295263.1:p.Arg1104Trp
• NP_001317467.1:p.Arg1116Trp
• NP_056087.2:p.Arg1150Trp
• LRG_696t1:c.3208C>T
• LRG_696t2:c.3448C>T
• LRG_696:g.89667C>T
• LRG_696p1:p.Arg1070Trp
• LRG_696p2:p.Arg1150Trp
• NC_000016.9:g.53653105G>A

This HGVS expression did not pass validation

Protein change:

R1070W

Links:

dbSNP: rs750930363

NCBI 1000 Genomes Browser:

rs750930363

Molecular consequence:

• NM_001127897.4:c.3208C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308334.3:c.3310C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330538.2:c.3346C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015272.5:c.3448C>T - missense variant - [Sequence Ontology: SO:0001583]