ClinVar

NM_006941.4(SOX10):c.336G>T (p.Met112Ile)

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: 37983449 (on Assembly GRCh38)
• Chr22: 38379456 (on Assembly GRCh37)

Preferred name:

NM_006941.4(SOX10):c.336G>T (p.Met112Ile)

HGVS:

• NC_000022.11:g.37983449C>A
• NG_007948.1:g.6084G>T
• NG_148296.1:g.726C>A
• NM_001301130.2:c.294-2705C>A
• NM_001301131.2:c.293+16279C>A
• NM_001363825.1:c.*38+11139C>A
• NM_006941.4:c.336G>TMANE SELECT
• NP_008872.1:p.Met112Ile
• NP_008872.1:p.Met112Ile
• LRG_271t1:c.336G>T
• LRG_271:g.6084G>T
• LRG_271p1:p.Met112Ile
• NC_000022.10:g.38379456C>A
• NM_006941.3:c.336G>T

This HGVS expression did not pass validation

Protein change:

M112I

Links:

dbSNP: rs2145777042

NCBI 1000 Genomes Browser:

rs2145777042

Molecular consequence:

• NM_001301130.2:c.294-2705C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301131.2:c.293+16279C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363825.1:c.*38+11139C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006941.4:c.336G>T - missense variant - [Sequence Ontology: SO:0001583]