ClinVar

NM_000344.4(SMN1):c.379T>C (p.Tyr127His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

• Chr5: 70942463 (on Assembly GRCh38)
• Chr5: 70238290 (on Assembly GRCh37)

Preferred name:

NM_000344.4(SMN1):c.379T>C (p.Tyr127His)

HGVS:

• NC_000005.10:g.70942463T>C
• NG_008691.1:g.22523T>C
• NM_000344.4:c.379T>CMANE SELECT
• NM_001297715.1:c.379T>C
• NM_022874.2:c.379T>C
• NP_000335.1:p.Tyr127His
• NP_001284644.1:p.Tyr127His
• NP_075012.1:p.Tyr127His
• LRG_676t1:c.379T>C
• LRG_676:g.22523T>C
• NC_000005.9:g.70238290T>C
• NM_000344.3:c.379T>C

This HGVS expression did not pass validation

Protein change:

Y127H

Links:

dbSNP: rs1749441633

NCBI 1000 Genomes Browser:

rs1749441633

Molecular consequence:

• NM_000344.4:c.379T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297715.1:c.379T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_022874.2:c.379T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3