ClinVar

NM_006941.4(SOX10):c.415G>T (p.Gly139Cys)

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: 37983370 (on Assembly GRCh38)
• Chr22: 38379377 (on Assembly GRCh37)

Preferred name:

NM_006941.4(SOX10):c.415G>T (p.Gly139Cys)

HGVS:

• NC_000022.11:g.37983370C>A
• NG_007948.1:g.6163G>T
• NG_148296.1:g.647C>A
• NM_001301130.2:c.294-2784C>A
• NM_001301131.2:c.293+16200C>A
• NM_001363825.1:c.*38+11060C>A
• NM_006941.4:c.415G>TMANE SELECT
• NP_008872.1:p.Gly139Cys
• NP_008872.1:p.Gly139Cys
• LRG_271t1:c.415G>T
• LRG_271:g.6163G>T
• LRG_271p1:p.Gly139Cys
• NC_000022.10:g.38379377C>A
• NM_006941.3:c.415G>T

This HGVS expression did not pass validation

Protein change:

G139C

Links:

dbSNP: rs1569171143

NCBI 1000 Genomes Browser:

rs1569171143

Molecular consequence:

• NM_001301130.2:c.294-2784C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301131.2:c.293+16200C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363825.1:c.*38+11060C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006941.4:c.415G>T - missense variant - [Sequence Ontology: SO:0001583]