ClinVar

NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)

Gene:

ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q32.1

Genomic location:

• Chr4: 158706351 (on Assembly GRCh38)
• Chr4: 159627503 (on Assembly GRCh37)

Preferred name:

NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)

HGVS:

• NC_000004.12:g.158706351C>T
• NG_007078.2:g.39010C>T
• NM_001281737.2:c.1307C>T
• NM_001281738.1:c.1265C>T
• NM_004453.4:c.1448C>TMANE SELECT
• NP_001268666.1:p.Pro436Leu
• NP_001268667.1:p.Pro422Leu
• NP_004444.2:p.Pro483Leu
• NC_000004.11:g.159627503C>T
• NM_004453.2:c.1448C>T
• NM_004453.3:c.1448C>T
• Q16134:p.Pro483Leu

This HGVS expression did not pass validation

Protein change:

P422L; PRO483LEU

Links:

UniProtKB: Q16134#VAR_075457; OMIM: 231675.0008; dbSNP: rs377656387

NCBI 1000 Genomes Browser:

rs377656387

Molecular consequence:

• NM_001281737.2:c.1307C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281738.1:c.1265C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004453.4:c.1448C>T - missense variant - [Sequence Ontology: SO:0001583]