ClinVar

NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)

Gene:

SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

• Chr5: 70946163 (on Assembly GRCh38)
• Chr5: 70241990 (on Assembly GRCh37)

Preferred name:

NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)

HGVS:

• NC_000005.10:g.70946163C>T
• NG_008691.1:g.26223C>T
• NM_000344.4:c.821C>TMANE SELECT
• NM_001297715.1:c.821C>T
• NM_022874.2:c.725C>T
• NP_000335.1:p.Thr274Ile
• NP_000335.1:p.Thr274Ile
• NP_001284644.1:p.Thr274Ile
• NP_075012.1:p.Thr242Ile
• LRG_676t1:c.821C>T
• LRG_676:g.26223C>T
• LRG_676p1:p.Thr274Ile
• NC_000005.9:g.70241990C>T
• NM_000344.3:c.821C>T
• Q16637:p.Thr274Ile
• p.THR274ILE

This HGVS expression did not pass validation

Protein change:

T242I; THR274ILE

Links:

UniProtKB: Q16637#VAR_005618; OMIM: 600354.0002; dbSNP: rs1554066666

NCBI 1000 Genomes Browser:

rs1554066666

Molecular consequence:

• NM_000344.4:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297715.1:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022874.2:c.725C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1