ClinVar

NM_004317.4(GET3):c.28G>T (p.Val10Phe)

Genes:

LOC117038786:CRISPRi-FlowFISH-validated TRIR regulatory element [Gene]
GET3:guided entry of tail-anchored proteins factor 3, ATPase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 12737533 (on Assembly GRCh38)
• Chr19: 12848347 (on Assembly GRCh37)

Preferred name:

NM_004317.4(GET3):c.28G>T (p.Val10Phe)

HGVS:

• NC_000019.10:g.12737533G>T
• NG_051267.1:g.5075G>T
• NG_068112.1:g.783G>T
• NM_001371488.1:c.28G>T
• NM_001371489.1:c.28G>T
• NM_004317.4:c.28G>TMANE SELECT
• NP_001358417.1:p.Val10Phe
• NP_001358418.1:p.Val10Phe
• NP_004308.2:p.Val10Phe
• NC_000019.9:g.12848347G>T
• NM_004317.2:c.28G>T

This HGVS expression did not pass validation

Protein change:

V10F

Molecular consequence:

• NM_001371488.1:c.28G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371489.1:c.28G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004317.4:c.28G>T - missense variant - [Sequence Ontology: SO:0001583]