ClinVar

NM_000022.4(ADA):c.872C>T (p.Ser291Leu)

Gene:

ADA:adenosine deaminase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 44621121 (on Assembly GRCh38)
• Chr20: 43249762 (on Assembly GRCh37)

Preferred name:

NM_000022.4(ADA):c.872C>T (p.Ser291Leu)

HGVS:

• NC_000020.11:g.44621121G>A
• NG_007385.1:g.35615C>T
• NM_000022.4:c.872C>TMANE SELECT
• NM_001322050.2:c.467C>T
• NM_001322051.2:c.800C>T
• NP_000013.2:p.Ser291Leu
• NP_001308979.1:p.Ser156Leu
• NP_001308980.1:p.Ser267Leu
• LRG_16t1:c.872C>T
• LRG_16:g.35615C>T
• NC_000020.10:g.43249762G>A
• NM_000022.2:c.872C>T
• NM_000022.3:c.872C>T
• NR_136160.2:n.899C>T
• P00813:p.Ser291Leu

This HGVS expression did not pass validation

Protein change:

S156L; SER291LEU

Links:

UniProtKB: P00813#VAR_002237; UniProtKB/Swiss-Prot: VAR_002237; OMIM: 608958.0019; dbSNP: rs121908721

NCBI 1000 Genomes Browser:

rs121908721

Molecular consequence:

• NM_000022.4:c.872C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322050.2:c.467C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322051.2:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136160.2:n.899C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]