ClinVar

NM_001142800.2(EYS):c.8680G>A (p.Gly2894Ser)

Genes:

PHF3:PHD finger protein 3 [Gene - OMIM - HGNC]
EYS:eyes shut homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q12

Genomic location:

• Chr6: 63721351 (on Assembly GRCh38)
• Chr6: 64431247 (on Assembly GRCh37)

Preferred name:

NM_001142800.2(EYS):c.8680G>A (p.Gly2894Ser)

HGVS:

• NC_000006.12:g.63721351C>T
• NG_023443.2:g.1990875G>A
• NG_034034.2:g.90551C>T
• NM_001142800.2:c.8680G>AMANE SELECT
• NM_001290259.2:c.*7643C>T
• NM_001292009.2:c.8743G>A
• NM_001370348.2:c.*7643C>TMANE SELECT
• NM_001370349.2:c.*7643C>T
• NM_001370350.2:c.*7643C>T
• NM_015153.4:c.*7643C>T
• NP_001136272.1:p.Gly2894Ser
• NP_001278938.1:p.Gly2915Ser
• NC_000006.11:g.64431247C>T
• NM_001142800.1:c.8680G>A

This HGVS expression did not pass validation

Protein change:

G2894S

Links:

dbSNP: rs971882330

NCBI 1000 Genomes Browser:

rs971882330

Molecular consequence:

• NM_001290259.2:c.*7643C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001370348.2:c.*7643C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001370349.2:c.*7643C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001370350.2:c.*7643C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_015153.4:c.*7643C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001142800.2:c.8680G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292009.2:c.8743G>A - missense variant - [Sequence Ontology: SO:0001583]