ClinVar

NM_006941.4(SOX10):c.429-19G>A

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: 37978154 (on Assembly GRCh38)
• Chr22: 38374161 (on Assembly GRCh37)

Preferred name:

NM_006941.4(SOX10):c.429-19G>A

HGVS:

• NC_000022.11:g.37978154C>T
• NG_007948.1:g.11379G>A
• NM_001301130.2:c.294-8000C>T
• NM_001301131.2:c.293+10984C>T
• NM_001363825.1:c.*38+5844C>T
• NM_006941.4:c.429-19G>AMANE SELECT
• LRG_271t1:c.429-19G>A
• LRG_271:g.11379G>A
• NC_000022.10:g.38374161C>T
• NM_006941.3:c.429-19G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs374481457

NCBI 1000 Genomes Browser:

rs374481457

Molecular consequence:

• NM_001301130.2:c.294-8000C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301131.2:c.293+10984C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363825.1:c.*38+5844C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006941.4:c.429-19G>A - intron variant - [Sequence Ontology: SO:0001627]