ClinVar

NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 150374657 (on Assembly GRCh38)
• Chr5: 149754220 (on Assembly GRCh37)

Preferred name:

NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)

HGVS:

• NC_000005.10:g.150374657C>T
• NG_011341.1:g.22019C>T
• NM_000356.4:c.893C>T
• NM_001008657.3:c.1124C>T
• NM_001135243.2:c.1124C>T
• NM_001135244.2:c.1124C>T
• NM_001135245.2:c.893C>T
• NM_001195141.2:c.1124C>T
• NM_001371623.1:c.1124C>TMANE SELECT
• NP_000347.2:p.Ser298Leu
• NP_001008657.1:p.Ser375Leu
• NP_001128715.1:p.Ser375Leu
• NP_001128716.1:p.Ser375Leu
• NP_001128717.1:p.Ser298Leu
• NP_001182070.1:p.Ser375Leu
• NP_001358552.1:p.Ser375Leu
• NC_000005.9:g.149754220C>T
• NM_001135243.1:c.1124C>T

This HGVS expression did not pass validation

Protein change:

S298L

Links:

dbSNP: rs756584594

NCBI 1000 Genomes Browser:

rs756584594

Molecular consequence:

• NM_000356.4:c.893C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001008657.3:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135243.2:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135244.2:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001135245.2:c.893C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001195141.2:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371623.1:c.1124C>T - missense variant - [Sequence Ontology: SO:0001583]