ClinVar

NM_000543.5(SMPD1):c.221A>C (p.His74Pro)

Gene:

SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 6390819 (on Assembly GRCh38)
• Chr11: 6412049 (on Assembly GRCh37)

Preferred name:

NM_000543.5(SMPD1):c.221A>C (p.His74Pro)

HGVS:

• NC_000011.10:g.6390819A>C
• NG_011780.1:g.5395A>C
• NM_000543.5:c.221A>CMANE SELECT
• NM_001007593.3:c.221A>C
• NM_001318087.2:c.221A>C
• NM_001318088.2:c.-741A>C
• NM_001365135.2:c.221A>C
• NP_000534.3:p.His74Pro
• NP_001007594.2:p.His74Pro
• NP_001305016.1:p.His74Pro
• NP_001352064.1:p.His74Pro
• NC_000011.9:g.6412049A>C
• NR_027400.3:n.346A>C
• NR_134502.2:n.346A>C

This HGVS expression did not pass validation

Protein change:

H74P

Links:

dbSNP: rs1564922040

NCBI 1000 Genomes Browser:

rs1564922040

Molecular consequence:

• NM_001318088.2:c.-741A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000543.5:c.221A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001007593.3:c.221A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318087.2:c.221A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365135.2:c.221A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_027400.3:n.346A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_134502.2:n.346A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1