ClinVar

NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)

Gene:

RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.2

Genomic location:

• Chr16: 53641344 (on Assembly GRCh38)
• Chr16: 53675256 (on Assembly GRCh37)

Preferred name:

NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)

HGVS:

• NC_000016.10:g.53641344C>T
• NG_008991.2:g.67516G>A
• NM_001127897.4:c.2815G>A
• NM_001308334.3:c.2815G>A
• NM_001330538.2:c.2815G>A
• NM_015272.5:c.2815G>AMANE SELECT
• NP_001121369.1:p.Glu939Lys
• NP_001295263.1:p.Glu939Lys
• NP_001317467.1:p.Glu939Lys
• NP_056087.2:p.Glu939Lys
• LRG_696t1:c.2815G>A
• LRG_696t2:c.2815G>A
• LRG_696:g.67516G>A
• LRG_696p1:p.Glu939Lys
• LRG_696p2:p.Glu939Lys
• NC_000016.9:g.53675256C>T
• NM_015272.2:c.2815G>A

This HGVS expression did not pass validation

Protein change:

E939K

Links:

dbSNP: rs371763050

NCBI 1000 Genomes Browser:

rs371763050

Molecular consequence:

• NM_001127897.4:c.2815G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308334.3:c.2815G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330538.2:c.2815G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015272.5:c.2815G>A - missense variant - [Sequence Ontology: SO:0001583]