ClinVar

NM_001371623.1(TCOF1):c.1166C>T (p.Ala389Val)

Gene:

TCOF1:treacle ribosome biogenesis factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 150374699 (on Assembly GRCh38)
• Chr5: 149754262 (on Assembly GRCh37)

Preferred name:

NM_001371623.1(TCOF1):c.1166C>T (p.Ala389Val)

HGVS:

• NC_000005.10:g.150374699C>T
• NG_011341.1:g.22061C>T
• NM_000356.4:c.935C>T
• NM_001008657.3:c.1166C>T
• NM_001135243.2:c.1166C>T
• NM_001135244.2:c.1166C>T
• NM_001135245.2:c.935C>T
• NM_001195141.2:c.1166C>T
• NM_001371623.1:c.1166C>TMANE SELECT
• NP_000347.2:p.Ala312Val
• NP_001008657.1:p.Ala389Val
• NP_001128715.1:p.Ala389Val
• NP_001128715.1:p.Ala389Val
• NP_001128716.1:p.Ala389Val
• NP_001128717.1:p.Ala312Val
• NP_001182070.1:p.Ala389Val
• NP_001358552.1:p.Ala389Val
• NC_000005.9:g.149754262C>T
• NC_000005.9:g.149754262C>T
• NM_001135243.1:c.1166C>T

This HGVS expression did not pass validation

Protein change:

A312V

Links:

dbSNP: rs773945106

NCBI 1000 Genomes Browser:

rs773945106

Molecular consequence:

• NM_000356.4:c.935C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001008657.3:c.1166C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135243.2:c.1166C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135244.2:c.1166C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135245.2:c.935C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195141.2:c.1166C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371623.1:c.1166C>T - missense variant - [Sequence Ontology: SO:0001583]