ClinVar

NM_006567.5(FARS2):c.467C>T (p.Thr156Met)

Genes:

LOC126859565:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944 [Gene]
FARS2:phenylalanyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p25.1

Genomic location:

• Chr6: 5369037 (on Assembly GRCh38)
• Chr6: 5369270 (on Assembly GRCh37)

Preferred name:

NM_006567.5(FARS2):c.467C>T (p.Thr156Met)

HGVS:

• NC_000006.12:g.5369037C>T
• NG_033003.2:g.112687C>T
• NM_001318872.2:c.467C>T
• NM_001374875.1:c.467C>T
• NM_001374876.1:c.467C>T
• NM_001374877.1:c.467C>T
• NM_001374878.1:c.467C>T
• NM_001374879.1:c.467C>T
• NM_001375257.1:c.467C>T
• NM_001375258.1:c.467C>T
• NM_001375259.1:c.-84-35505C>T
• NM_001375260.1:c.-340-27596C>T
• NM_006567.5:c.467C>TMANE SELECT
• NP_001305801.1:p.Thr156Met
• NP_001361804.1:p.Thr156Met
• NP_001361805.1:p.Thr156Met
• NP_001361806.1:p.Thr156Met
• NP_001361807.1:p.Thr156Met
• NP_001361808.1:p.Thr156Met
• NP_001362186.1:p.Thr156Met
• NP_001362187.1:p.Thr156Met
• NP_006558.1:p.Thr156Met
• NC_000006.11:g.5369270C>T
• NM_006567.3:c.467C>T
• NM_006567.4:c.467C>T

This HGVS expression did not pass validation

Protein change:

T156M

Links:

dbSNP: rs146988468

NCBI 1000 Genomes Browser:

rs146988468

Molecular consequence:

• NM_001375259.1:c.-84-35505C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001375260.1:c.-340-27596C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318872.2:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374875.1:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374876.1:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374877.1:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374878.1:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374879.1:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375257.1:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375258.1:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006567.5:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1