ClinVar

NM_004247.4(EFTUD2):c.1412A>T (p.Asp471Val)

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: 44863656 (on Assembly GRCh38)
• Chr17: 42941024 (on Assembly GRCh37)

Preferred name:

NM_004247.4(EFTUD2):c.1412A>T (p.Asp471Val)

HGVS:

• NC_000017.11:g.44863656T>A
• NG_032674.1:g.40970A>T
• NM_001142605.2:c.1307A>T
• NM_001258353.2:c.1412A>T
• NM_001258354.2:c.1382A>T
• NM_004247.4:c.1412A>TMANE SELECT
• NP_001136077.1:p.Asp436Val
• NP_001245282.1:p.Asp471Val
• NP_001245283.1:p.Asp461Val
• NP_004238.3:p.Asp471Val
• NC_000017.10:g.42941024T>A
• NM_004247.3:c.1412A>T

This HGVS expression did not pass validation

Protein change:

D436V

Molecular consequence:

• NM_001142605.2:c.1307A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258353.2:c.1412A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258354.2:c.1382A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004247.4:c.1412A>T - missense variant - [Sequence Ontology: SO:0001583]