ClinVar

NM_001109754.4(PTPRB):c.3965G>A (p.Arg1322His)

Gene:

PTPRB:protein tyrosine phosphatase receptor type B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q15

Genomic location:

• Chr12: 70563047 (on Assembly GRCh38)
• Chr12: 70956827 (on Assembly GRCh37)

Preferred name:

NM_001109754.4(PTPRB):c.3965G>A (p.Arg1322His)

HGVS:

• NC_000012.12:g.70563047C>T
• NG_029940.2:g.79394G>A
• NM_001109754.4:c.3965G>AMANE SELECT
• NM_001206971.3:c.3041G>A
• NM_001206972.3:c.3041G>A
• NM_001330204.2:c.3701G>A
• NM_002837.6:c.3311G>A
• NP_001103224.1:p.Arg1322His
• NP_001193900.1:p.Arg1014His
• NP_001193901.1:p.Arg1014His
• NP_001317133.1:p.Arg1234His
• NP_002828.3:p.Arg1104His
• NC_000012.11:g.70956827C>T
• NM_001109754.2:c.3965G>A

This HGVS expression did not pass validation

Protein change:

R1014H

Molecular consequence:

• NM_001109754.4:c.3965G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001206971.3:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001206972.3:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330204.2:c.3701G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002837.6:c.3311G>A - missense variant - [Sequence Ontology: SO:0001583]