ClinVar

NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)

Gene:

ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.1

Genomic location:

• Chr22: 40365000 (on Assembly GRCh38)
• Chr22: 40761004 (on Assembly GRCh37)

Preferred name:

NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)

Other names:

ADSL, SER413PRO

HGVS:

• NC_000022.11:g.40365000T>C
• NG_007993.2:g.23501T>C
• NM_000026.4:c.1312T>CMANE SELECT
• NM_001123378.3:c.1191+635T>C
• NM_001317923.2:c.1120T>C
• NM_001363840.3:c.1312T>C
• NP_000017.1:p.Ser438Pro
• NP_001304852.1:p.Ser374Pro
• NP_001350769.1:p.Ser438Pro
• NC_000022.10:g.40761004T>C
• NR_134256.2:n.1402T>C
• P30566:p.Ser438Pro

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 6150139 to determine the location of this allele on current reference sequence (S438P).

Protein change:

S374P

Links:

UniProtKB: P30566#VAR_000680; OMIM: 608222.0001; dbSNP: rs119450940

NCBI 1000 Genomes Browser:

rs119450940

Molecular consequence:

• NM_001123378.3:c.1191+635T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000026.4:c.1312T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001317923.2:c.1120T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363840.3:c.1312T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_134256.2:n.1402T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]