ClinVar

NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)

Gene:

RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.2

Genomic location:

• Chr16: 53619100 (on Assembly GRCh38)
• Chr16: 53653012 (on Assembly GRCh37)

Preferred name:

NM_015272.5(RPGRIP1L):c.3541C>A (p.Leu1181Ile)

HGVS:

• NC_000016.10:g.53619100G>T
• NG_008991.2:g.89760C>A
• NM_001127897.4:c.3301C>A
• NM_001308334.3:c.3403C>A
• NM_001330538.2:c.3439C>A
• NM_015272.5:c.3541C>AMANE SELECT
• NP_001121369.1:p.Leu1101Ile
• NP_001295263.1:p.Leu1135Ile
• NP_001317467.1:p.Leu1147Ile
• NP_056087.2:p.Leu1181Ile
• LRG_696t1:c.3301C>A
• LRG_696t2:c.3541C>A
• LRG_696:g.89760C>A
• LRG_696p1:p.Leu1101Ile
• LRG_696p2:p.Leu1181Ile
• NC_000016.9:g.53653012G>T

This HGVS expression did not pass validation

Protein change:

L1101I

Links:

dbSNP: rs905516252

NCBI 1000 Genomes Browser:

rs905516252

Molecular consequence:

• NM_001127897.4:c.3301C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308334.3:c.3403C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330538.2:c.3439C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015272.5:c.3541C>A - missense variant - [Sequence Ontology: SO:0001583]