ClinVar

NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 150374802 (on Assembly GRCh38)
• Chr5: 149754365 (on Assembly GRCh37)

Preferred name:

NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=)

HGVS:

• NC_000005.10:g.150374802G>A
• NG_011341.1:g.22164G>A
• NM_000356.4:c.1038G>A
• NM_001008657.3:c.1269G>A
• NM_001135243.2:c.1269G>A
• NM_001135244.2:c.1269G>A
• NM_001135245.2:c.1038G>A
• NM_001195141.2:c.1269G>A
• NM_001371623.1:c.1269G>AMANE SELECT
• NP_000347.2:p.Ala346=
• NP_001008657.1:p.Ala423=
• NP_001128715.1:p.Ala423=
• NP_001128715.1:p.Ala423=
• NP_001128716.1:p.Ala423=
• NP_001128717.1:p.Ala346=
• NP_001182070.1:p.Ala423=
• NP_001358552.1:p.Ala423=
• NC_000005.9:g.149754365G>A
• NC_000005.9:g.149754365G>A
• NM_001135243.1:c.1269G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs72492454

NCBI 1000 Genomes Browser:

rs72492454

Molecular consequence:

• NM_000356.4:c.1038G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001008657.3:c.1269G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135243.2:c.1269G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135244.2:c.1269G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135245.2:c.1038G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195141.2:c.1269G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001371623.1:c.1269G>A - synonymous variant - [Sequence Ontology: SO:0001819]