ClinVar

NM_080675.3(SUN5):c.696G>A (p.Trp232Ter)

Gene:

SUN5:Sad1 and UNC84 domain containing 5 [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.21

Genomic location:

• Chr20: 32987693 (on Assembly GRCh38)
• Chr20: 31575499 (on Assembly GRCh37)
• Chr20: 31039160 (on Assembly NCBI36)

Preferred name:

NM_080675.3(SUN5):c.696G>A (p.Trp232Ter)

HGVS:

• NC_000020.11:g.32987693C>T
• NM_080675.3:c.696G>A
• NP_542406.2:p.Trp232Ter
• NC_000020.10:g.31575499C>T
• NC_000020.9:g.31039160C>T

This HGVS expression did not pass validation

Protein change:

W232*

Links:

dbSNP: rs137876184

NCBI 1000 Genomes Browser:

rs137876184

Molecular consequence:

• NM_080675.3:c.696G>A - nonsense - [Sequence Ontology: SO:0001587]