ClinVar

NM_016495.6(TBC1D7):c.467G>A (p.Arg156Gln)

Genes:

TBC1D7:TBC1 domain family member 7 [Gene - OMIM - HGNC]
TBC1D7-LOC100130357:TBC1D7-LOC100130357 readthrough [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

6p24.1

Genomic location:

• Chr6: 13316623 (on Assembly GRCh38)
• Chr6: 13316855 (on Assembly GRCh37)

Preferred name:

NM_016495.6(TBC1D7):c.467G>A (p.Arg156Gln)

HGVS:

• NC_000006.12:g.13316623C>T
• NG_033862.1:g.16961G>A
• NM_001143964.4:c.467G>A
• NM_001143965.4:c.467G>A
• NM_001143966.4:c.386G>A
• NM_001258457.3:c.381+4285G>A
• NM_001318805.2:c.467G>A
• NM_001318809.2:c.467G>A
• NM_016495.6:c.467G>AMANE SELECT
• NP_001137436.1:p.Arg156Gln
• NP_001137437.1:p.Arg156Gln
• NP_001137438.1:p.Arg129Gln
• NP_001305734.1:p.Arg156Gln
• NP_001305738.1:p.Arg156Gln
• NP_057579.1:p.Arg156Gln
• NC_000006.11:g.13316855C>T
• NM_016495.5:c.467G>A
• NR_134872.2:n.557G>A

This HGVS expression did not pass validation

Protein change:

R129Q

Molecular consequence:

• NM_001258457.3:c.381+4285G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001143964.4:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143965.4:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143966.4:c.386G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318805.2:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318809.2:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016495.6:c.467G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134872.2:n.557G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1