ClinVar

NM_001001331.4(ATP2B2):c.407C>T (p.Thr136Met)

Gene:

ATP2B2:ATPase plasma membrane Ca2+ transporting 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

• Chr3: 10402339 (on Assembly GRCh38)
• Chr3: 10444023 (on Assembly GRCh37)

Preferred name:

NM_001001331.4(ATP2B2):c.407C>T (p.Thr136Met)

HGVS:

• NC_000003.12:g.10402339G>A
• NG_012046.2:g.310693C>T
• NM_001001331.4:c.407C>TMANE SELECT
• NM_001330611.3:c.407C>T
• NM_001353564.1:c.407C>T
• NM_001363862.1:c.407C>T
• NM_001683.5:c.407C>T
• NP_001001331.1:p.Thr136Met
• NP_001317540.1:p.Thr136Met
• NP_001340493.1:p.Thr136Met
• NP_001350791.1:p.Thr136Met
• NP_001674.2:p.Thr136Met
• NC_000003.11:g.10444023G>A

This HGVS expression did not pass validation

Protein change:

T136M

Molecular consequence:

• NM_001001331.4:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330611.3:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353564.1:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363862.1:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001683.5:c.407C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1