ClinVar

NM_004247.4(EFTUD2):c.1061G>A (p.Arg354Gln)

Gene:

EFTUD2:elongation factor Tu GTP binding domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 44867895 (on Assembly GRCh38)
• Chr17: 42945263 (on Assembly GRCh37)

Preferred name:

NM_004247.4(EFTUD2):c.1061G>A (p.Arg354Gln)

HGVS:

• NC_000017.11:g.44867895C>T
• NG_032674.1:g.36731G>A
• NM_001142605.2:c.956G>A
• NM_001258353.2:c.1061G>A
• NM_001258354.2:c.1031G>A
• NM_004247.4:c.1061G>AMANE SELECT
• NP_001136077.1:p.Arg319Gln
• NP_001245282.1:p.Arg354Gln
• NP_001245283.1:p.Arg344Gln
• NP_004238.3:p.Arg354Gln
• NC_000017.10:g.42945263C>T
• NM_004247.3:c.1061G>A

This HGVS expression did not pass validation

Protein change:

R319Q

Links:

dbSNP: rs758219829

NCBI 1000 Genomes Browser:

rs758219829

Molecular consequence:

• NM_001142605.2:c.956G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258353.2:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258354.2:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004247.4:c.1061G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1