ClinVar

NM_006941.4(SOX10):c.1220C>T (p.Pro407Leu)

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: 37973676 (on Assembly GRCh38)
• Chr22: 38369683 (on Assembly GRCh37)

Preferred name:

NM_006941.4(SOX10):c.1220C>T (p.Pro407Leu)

HGVS:

• NC_000022.11:g.37973676G>A
• NG_007948.1:g.15857C>T
• NM_001301130.2:c.293+6506G>A
• NM_001301131.2:c.293+6506G>A
• NM_001363825.1:c.*38+1366G>A
• NM_006941.4:c.1220C>TMANE SELECT
• NP_008872.1:p.Pro407Leu
• NP_008872.1:p.Pro407Leu
• LRG_271t1:c.1220C>T
• LRG_271:g.15857C>T
• LRG_271p1:p.Pro407Leu
• NC_000022.10:g.38369683G>A
• NM_006941.3:c.1220C>T

This HGVS expression did not pass validation

Protein change:

P407L

Molecular consequence:

• NM_001301130.2:c.293+6506G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001301131.2:c.293+6506G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363825.1:c.*38+1366G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006941.4:c.1220C>T - missense variant - [Sequence Ontology: SO:0001583]