ClinVar

NM_001001991.3(PAMR1):c.682G>A (p.Gly228Ser)

Gene:

PAMR1:peptidase domain containing associated with muscle regeneration 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

• Chr11: 35470631 (on Assembly GRCh38)
• Chr11: 35492179 (on Assembly GRCh37)

Preferred name:

NM_001001991.3(PAMR1):c.682G>A (p.Gly228Ser)

HGVS:

• NC_000011.10:g.35470631C>T
• NM_001001991.3:c.682G>AMANE SELECT
• NM_001282675.2:c.562G>A
• NM_001282676.2:c.380-2523G>A
• NM_015430.4:c.682G>A
• NP_001001991.1:p.Gly228Ser
• NP_001269604.1:p.Gly188Ser
• NP_056245.2:p.Gly228Ser
• NC_000011.9:g.35492179C>T
• NM_015430.2:c.682G>A

This HGVS expression did not pass validation

Protein change:

G188S

Molecular consequence:

• NM_001282676.2:c.380-2523G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001001991.3:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282675.2:c.562G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015430.4:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]