ClinVar

NM_006941.4(SOX10):c.428+2T>C

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: 37983355 (on Assembly GRCh38)
• Chr22: 38379362 (on Assembly GRCh37)

Preferred name:

NM_006941.4(SOX10):c.428+2T>C

HGVS:

• NC_000022.11:g.37983355A>G
• NG_007948.1:g.6178T>C
• NG_148296.1:g.632A>G
• NM_001301130.2:c.294-2799A>G
• NM_001301131.2:c.293+16185A>G
• NM_001363825.1:c.*38+11045A>G
• NM_006941.4:c.428+2T>CMANE SELECT
• LRG_271:g.6178T>C
• NC_000022.10:g.38379362A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1601886662

NCBI 1000 Genomes Browser:

rs1601886662

Molecular consequence:

• NM_001301130.2:c.294-2799A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301131.2:c.293+16185A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363825.1:c.*38+11045A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_006941.4:c.428+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]