ClinVar

NM_003321.5(TUFM):c.684+6C>T

Gene:

TUFM:Tu translation elongation factor, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 28844692 (on Assembly GRCh38)
• Chr16: 28856013 (on Assembly GRCh37)

Preferred name:

NM_003321.5(TUFM):c.684+6C>T

HGVS:

• NC_000016.10:g.28844692G>A
• NG_008964.1:g.6717C>T
• NG_029706.2:g.3093G>A
• NM_001365360.2:c.684+6C>T
• NM_003321.5:c.684+6C>TMANE SELECT
• NC_000016.9:g.28856013G>A
• NM_003321.4:c.684+6C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs188421321

NCBI 1000 Genomes Browser:

rs188421321

Molecular consequence:

• NM_001365360.2:c.684+6C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003321.5:c.684+6C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

12