ClinVar

NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)

Genes:

CCDC39:coiled-coil domain 39 molecular ruler complex subunit [Gene - OMIM - HGNC]
TTC14:tetratricopeptide repeat domain 14 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.33

Genomic location:

• Chr3: 180616335 (on Assembly GRCh38)
• Chr3: 180334123 (on Assembly GRCh37)

Preferred name:

NM_181426.2(CCDC39):c.2615C>A (p.Thr872Lys)

HGVS:

• NC_000003.12:g.180616335G>T
• NG_029581.1:g.68161C>A
• NM_001288582.2:c.1775-1045G>T
• NM_181426.2:c.2615C>AMANE SELECT
• NP_852091.1:p.Thr872Lys
• NC_000003.11:g.180334123G>T
• NM_181426.1:c.2615C>A

This HGVS expression did not pass validation

Protein change:

T872K

Links:

dbSNP: rs202027034

NCBI 1000 Genomes Browser:

rs202027034

Molecular consequence:

• NM_001288582.2:c.1775-1045G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_181426.2:c.2615C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1