ClinVar

NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu)

Genes:

CCNF:cyclin F [Gene - OMIM - HGNC]
TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2498279 (on Assembly GRCh38)
• Chr16: 2548280 (on Assembly GRCh37)

Preferred name:

NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu)

HGVS:

• NC_000016.10:g.2498279C>T
• NG_028170.1:g.28134C>T
• NM_001199107.2:c.1025C>TMANE SELECT
• NM_020705.3:c.1007C>T
• NP_001186036.1:p.Ser342Leu
• NP_065756.1:p.Ser336Leu
• NC_000016.9:g.2548280C>T

This HGVS expression did not pass validation

Protein change:

S336L

Links:

dbSNP: rs1159971280

NCBI 1000 Genomes Browser:

rs1159971280

Molecular consequence:

• NM_001199107.2:c.1025C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020705.3:c.1007C>T - missense variant - [Sequence Ontology: SO:0001583]