ClinVar

NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe)

Gene:

EYS:eyes shut homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q12

Genomic location:

• Chr6: 64590623 (on Assembly GRCh38)
• Chr6: 65300516 (on Assembly GRCh37)

Preferred name:

NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe)

Other names:

p.L1748F:TTA>TTC

HGVS:

• NC_000006.12:g.64590623T>G
• NG_023443.2:g.1121603A>C
• NM_001142800.2:c.5244A>CMANE SELECT
• NM_001292009.2:c.5244A>C
• NP_001136272.1:p.Leu1748Phe
• NP_001136272.1:p.Leu1748Phe
• NP_001278938.1:p.Leu1748Phe
• FM209056.1:c.5244A>C
• NC_000006.11:g.65300516T>G
• NM_001142800.1:c.5244A>C
• Q5T1H1:p.Leu1748Phe

This HGVS expression did not pass validation

Protein change:

L1748F

Links:

UniProtKB: Q5T1H1#VAR_063468; dbSNP: rs57312007

NCBI 1000 Genomes Browser:

rs57312007

Molecular consequence:

• NM_001142800.2:c.5244A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292009.2:c.5244A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3