ClinVar

NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2496474 (on Assembly GRCh38)
• Chr16: 2546475 (on Assembly GRCh37)

Preferred name:

NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His)

HGVS:

• NC_000016.10:g.2496474G>A
• NG_028170.1:g.26329G>A
• NM_001199107.2:c.326G>AMANE SELECT
• NM_020705.3:c.326G>A
• NP_001186036.1:p.Arg109His
• NP_065756.1:p.Arg109His
• NC_000016.9:g.2546475G>A
• NM_020705.2:c.326G>A

This HGVS expression did not pass validation

Protein change:

R109H

Links:

dbSNP: rs746543920

NCBI 1000 Genomes Browser:

rs746543920

Molecular consequence:

• NM_001199107.2:c.326G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020705.3:c.326G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2