ClinVar

NM_006070.6(TFG):c.258G>T (p.Leu86=)

Gene:

TFG:trafficking from ER to golgi regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q12.2

Genomic location:

• Chr3: 100720048 (on Assembly GRCh38)
• Chr3: 100438892 (on Assembly GRCh37)

Preferred name:

NM_006070.6(TFG):c.258G>T (p.Leu86=)

HGVS:

• NC_000003.12:g.100720048G>T
• NG_027821.2:g.15759G>T
• NM_001007565.2:c.258G>T
• NM_001195478.2:c.258G>T
• NM_001195479.2:c.258G>T
• NM_006070.6:c.258G>TMANE SELECT
• NP_001007566.1:p.Leu86=
• NP_001182407.1:p.Leu86=
• NP_001182408.1:p.Leu86=
• NP_006061.2:p.Leu86=
• NC_000003.11:g.100438892G>T
• NM_006070.5:c.258G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs150620449

NCBI 1000 Genomes Browser:

rs150620449

Molecular consequence:

• NM_001007565.2:c.258G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195478.2:c.258G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195479.2:c.258G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006070.6:c.258G>T - synonymous variant - [Sequence Ontology: SO:0001819]