ClinVar

NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu)

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: 63720617 (on Assembly GRCh38)
• Chr6: 64430513 (on Assembly GRCh37)

Preferred name:

NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu)

HGVS:

• NC_000006.12:g.63720617A>C
• NG_023443.2:g.1991609T>G
• NG_034034.2:g.89817A>C
• NM_001142800.2:c.9414T>GMANE SELECT
• NM_001290259.2:c.*6909A>C
• NM_001292009.2:c.9477T>G
• NM_001370348.2:c.*6909A>CMANE SELECT
• NM_001370349.2:c.*6909A>C
• NM_001370350.2:c.*6909A>C
• NM_015153.4:c.*6909A>C
• NP_001136272.1:p.Asp3138Glu
• NP_001278938.1:p.Asp3159Glu
• NC_000006.11:g.64430513A>C
• NM_001142800.1:c.9414T>G

This HGVS expression did not pass validation

Protein change:

D3138E

Links:

dbSNP: rs374161234

NCBI 1000 Genomes Browser:

rs374161234

Molecular consequence:

• NM_001290259.2:c.*6909A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001370348.2:c.*6909A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001370349.2:c.*6909A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001370350.2:c.*6909A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_015153.4:c.*6909A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001142800.2:c.9414T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001292009.2:c.9477T>G - missense variant - [Sequence Ontology: SO:0001583]