ClinVar

NM_016495.6(TBC1D7):c.200T>G (p.Leu67Trp)

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: 13321089 (on Assembly GRCh38)
• Chr6: 13321321 (on Assembly GRCh37)

Preferred name:

NM_016495.6(TBC1D7):c.200T>G (p.Leu67Trp)

HGVS:

• NC_000006.12:g.13321089A>C
• NG_033862.1:g.12495T>G
• NM_001143964.4:c.200T>G
• NM_001143965.4:c.200T>G
• NM_001143966.4:c.119T>G
• NM_001258457.3:c.200T>G
• NM_001318805.2:c.200T>G
• NM_001318806.2:c.119T>G
• NM_001318809.2:c.200T>G
• NM_016495.6:c.200T>GMANE SELECT
• NP_001137436.1:p.Leu67Trp
• NP_001137437.1:p.Leu67Trp
• NP_001137437.1:p.Leu67Trp
• NP_001137438.1:p.Leu40Trp
• NP_001245386.1:p.Leu67Trp
• NP_001305734.1:p.Leu67Trp
• NP_001305735.1:p.Leu40Trp
• NP_001305738.1:p.Leu67Trp
• NP_057579.1:p.Leu67Trp
• NC_000006.11:g.13321321A>C
• NC_000006.11:g.13321321A>C
• NM_001143965.3:c.200T>G
• NM_016495.5:c.200T>G
• NR_134872.2:n.290T>G

This HGVS expression did not pass validation

Protein change:

L40W

Links:

dbSNP: rs543580

NCBI 1000 Genomes Browser:

rs543580

Molecular consequence:

• NM_001143964.4:c.200T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143965.4:c.200T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001143966.4:c.119T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258457.3:c.200T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318805.2:c.200T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318806.2:c.119T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318809.2:c.200T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_016495.6:c.200T>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_134872.2:n.290T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]