ClinVar

NM_024339.5(THOC6):c.838del (p.Val280fs)

Gene:

THOC6:THO complex subunit 6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 3027393 (on Assembly GRCh38)
• Chr16: 3077394 (on Assembly GRCh37)

Preferred name:

NM_024339.5(THOC6):c.838del (p.Val280fs)

HGVS:

• NC_000016.10:g.3027393del
• NG_052595.1:g.8375del
• NM_001142350.3:c.810+113del
• NM_001347703.2:c.766del
• NM_001347704.2:c.838del
• NM_024339.5:c.838delMANE SELECT
• NP_001334632.1:p.Val256fs
• NP_001334633.1:p.Val280fs
• NP_077315.2:p.Val280fs
• NC_000016.9:g.3077394del
• NM_024339.3:c.838delG

This HGVS expression did not pass validation

Protein change:

V256fs

Links:

dbSNP: rs2072826485

NCBI 1000 Genomes Browser:

rs2072826485

Molecular consequence:

• NM_001347703.2:c.766del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001347704.2:c.838del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_024339.5:c.838del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001142350.3:c.810+113del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1