ClinVar

NM_001122769.3(LCA5):c.647C>G (p.Pro216Arg)

Gene:

LCA5:lebercilin LCA5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q14.1

Genomic location:

• Chr6: 79513285 (on Assembly GRCh38)
• Chr6: 80223002 (on Assembly GRCh37)

Preferred name:

NM_001122769.3(LCA5):c.647C>G (p.Pro216Arg)

HGVS:

• NC_000006.12:g.79513285G>C
• NG_016011.1:g.29146C>G
• NM_001122769.3:c.647C>GMANE SELECT
• NM_181714.4:c.647C>G
• NP_001116241.1:p.Pro216Arg
• NP_859065.2:p.Pro216Arg
• NC_000006.11:g.80223002G>C
• NM_181714.3:c.647C>G

This HGVS expression did not pass validation

Protein change:

P216R

Links:

dbSNP: rs1766296436

NCBI 1000 Genomes Browser:

rs1766296436

Molecular consequence:

• NM_001122769.3:c.647C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_181714.4:c.647C>G - missense variant - [Sequence Ontology: SO:0001583]