ClinVar

NM_001105244.2(PTPRM):c.1749A>G (p.Ile583Met)

Gene:

PTPRM:protein tyrosine phosphatase receptor type M [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.23

Genomic location:

• Chr18: 8085868 (on Assembly GRCh38)
• Chr18: 8085866 (on Assembly GRCh37)

Preferred name:

NM_001105244.2(PTPRM):c.1749A>G (p.Ile583Met)

HGVS:

• NC_000018.10:g.8085868A>G
• NM_001105244.2:c.1749A>GMANE SELECT
• NM_001378142.1:c.1110A>G
• NM_001378143.1:c.1110A>G
• NM_001378144.1:c.1110A>G
• NM_001378145.1:c.1110A>G
• NM_001378146.1:c.1110A>G
• NM_001378147.1:c.1110A>G
• NM_002845.4:c.1749A>G
• NP_001098714.1:p.Ile583Met
• NP_001365071.1:p.Ile370Met
• NP_001365072.1:p.Ile370Met
• NP_001365073.1:p.Ile370Met
• NP_001365074.1:p.Ile370Met
• NP_001365075.1:p.Ile370Met
• NP_001365076.1:p.Ile370Met
• NP_002836.3:p.Ile583Met
• NC_000018.9:g.8085866A>G
• NM_002845.3:c.1749A>G

This HGVS expression did not pass validation

Protein change:

I370M

Links:

dbSNP: rs2090405367

NCBI 1000 Genomes Browser:

rs2090405367

Molecular consequence:

• NM_001105244.2:c.1749A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378142.1:c.1110A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378143.1:c.1110A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378144.1:c.1110A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378145.1:c.1110A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378146.1:c.1110A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378147.1:c.1110A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002845.4:c.1749A>G - missense variant - [Sequence Ontology: SO:0001583]