ClinVar

NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)

Gene:

RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.2

Genomic location:

• Chr16: 53652915 (on Assembly GRCh38)
• Chr16: 53686827 (on Assembly GRCh37)

Preferred name:

NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala)

HGVS:

• NC_000016.10:g.53652915A>G
• NG_008991.2:g.55945T>C
• NM_001127897.4:c.1772T>C
• NM_001308334.3:c.1772T>C
• NM_001330538.2:c.1772T>C
• NM_015272.5:c.1772T>CMANE SELECT
• NP_001121369.1:p.Val591Ala
• NP_001295263.1:p.Val591Ala
• NP_001317467.1:p.Val591Ala
• NP_056087.2:p.Val591Ala
• LRG_696t1:c.1772T>C
• LRG_696t2:c.1772T>C
• LRG_696:g.55945T>C
• LRG_696p1:p.Val591Ala
• LRG_696p2:p.Val591Ala
• NC_000016.9:g.53686827A>G
• NM_015272.2:c.1772T>C
• NM_015272.4:c.1772T>C

This HGVS expression did not pass validation

Protein change:

V591A

Links:

dbSNP: rs201131571

NCBI 1000 Genomes Browser:

rs201131571

Molecular consequence:

• NM_001127897.4:c.1772T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308334.3:c.1772T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330538.2:c.1772T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_015272.5:c.1772T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3