ClinVar

NM_024809.5(TCTN2):c.*67C>T

Genes:

ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
TCTN2:tectonic family member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.31

Genomic location:

• Chr12: 123707780 (on Assembly GRCh38)
• Chr12: 124192327 (on Assembly GRCh37)

Preferred name:

NM_024809.5(TCTN2):c.*67C>T

HGVS:

• NC_000012.12:g.123707780C>T
• NG_012743.1:g.463C>T
• NG_030442.1:g.41668C>T
• NM_001143850.3:c.*67C>T
• NM_024809.5:c.*67C>TMANE SELECT
• NC_000012.11:g.124192327C>T
• NM_024809.4:c.*67C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs112214860

NCBI 1000 Genomes Browser:

rs112214860

Molecular consequence:

• NM_001143850.3:c.*67C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_024809.5:c.*67C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]