ClinVar

NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)

Genes:

POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 37983696 (on Assembly GRCh38)
• Chr22: 38379703 (on Assembly GRCh37)

Preferred name:

NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)

HGVS:

• NC_000022.11:g.37983696G>T
• NG_007948.1:g.5837C>A
• NG_148296.1:g.973G>T
• NM_001301130.2:c.294-2458G>T
• NM_001301131.2:c.293+16526G>T
• NM_001363825.1:c.*38+11386G>T
• NM_006941.4:c.89C>AMANE SELECT
• NP_008872.1:p.Ser30Ter
• NP_008872.1:p.Ser30Ter
• LRG_271t1:c.89C>A
• LRG_271:g.5837C>A
• LRG_271p1:p.Ser30Ter
• NC_000022.10:g.38379703G>T
• NM_006941.3:c.89C>A

This HGVS expression did not pass validation

Protein change:

S30*

Links:

dbSNP: rs1932477493

NCBI 1000 Genomes Browser:

rs1932477493

Molecular consequence:

• NM_001301130.2:c.294-2458G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301131.2:c.293+16526G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363825.1:c.*38+11386G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006941.4:c.89C>A - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

protein truncation [Variation Ontology: 0015]