ClinVar

NM_178424.2(SOX30):c.250C>T (p.Pro84Ser)

Gene:

SOX30:SRY-box transcription factor 30 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

• Chr5: 157651829 (on Assembly GRCh38)
• Chr5: 157078837 (on Assembly GRCh37)

Preferred name:

NM_178424.2(SOX30):c.250C>T (p.Pro84Ser)

HGVS:

• NC_000005.10:g.157651829G>A
• NM_001308165.2:c.53-2933C>T
• NM_007017.3:c.250C>T
• NM_178424.2:c.250C>TMANE SELECT
• NP_008948.1:p.Pro84Ser
• NP_848511.1:p.Pro84Ser
• NC_000005.9:g.157078837G>A
• NM_178424.1:c.250C>T

This HGVS expression did not pass validation

Protein change:

P84S

Molecular consequence:

• NM_001308165.2:c.53-2933C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_007017.3:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_178424.2:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]