ClinVar

NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2500848 (on Assembly GRCh38)
• Chr16: 2550849 (on Assembly GRCh37)

Preferred name:

NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)

HGVS:

• NC_000016.10:g.2500848C>T
• NG_028170.1:g.30703C>T
• NM_001199107.2:c.1570C>TMANE SELECT
• NM_020705.3:c.1552C>T
• NP_001186036.1:p.Arg524Trp
• NP_065756.1:p.Arg518Trp
• NC_000016.9:g.2550849C>T
• NM_001199107.1:c.1570C>T
• NM_020705.2:c.1552C>T
• NM_020705.3:c.1552C>T

This HGVS expression did not pass validation

Protein change:

R518W

Links:

dbSNP: rs78644690

NCBI 1000 Genomes Browser:

rs78644690

Molecular consequence:

• NM_001199107.2:c.1570C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_020705.3:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]