ClinVar

NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro)

Gene:

AMPD2:adenosine monophosphate deaminase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.3

Genomic location:

• Chr1: 109626384 (on Assembly GRCh38)
• Chr1: 110169006 (on Assembly GRCh37)

Preferred name:

NM_001368809.2(AMPD2):c.488G>C (p.Arg163Pro)

Other names:

p.Arg217Pro

HGVS:

• NC_000001.11:g.109626384G>C
• NG_034075.1:g.11572G>C
• NM_001257360.1:c.650G>C
• NM_001257361.2:c.296G>C
• NM_001308170.1:c.425G>C
• NM_001368809.2:c.488G>CMANE SELECT
• NM_004037.9:c.488G>C
• NM_139156.4:c.407G>C
• NP_001244290.1:p.Arg99Pro
• NP_001295099.1:p.Arg142Pro
• NP_001355738.1:p.Arg163Pro
• NP_004028.4:p.Arg163Pro
• NP_631895.1:p.Arg136Pro
• NC_000001.10:g.110169006G>C
• NM_001368809.2:c.488G>C

This HGVS expression did not pass validation

Protein change:

R136P

Links:

dbSNP: rs138175138

NCBI 1000 Genomes Browser:

rs138175138

Molecular consequence:

• NM_001257361.2:c.296G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308170.1:c.425G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368809.2:c.488G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004037.9:c.488G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_139156.4:c.407G>C - missense variant - [Sequence Ontology: SO:0001583]