ClinVar

NM_001385109.1(PHC2):c.1100G>A (p.Arg367Gln)

Genes:

PHC2-AS1:PHC2 antisense RNA 1 [Gene - HGNC]
PHC2:polyhomeotic homolog 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.1

Genomic location:

• Chr1: 33355130 (on Assembly GRCh38)
• Chr1: 33820731 (on Assembly GRCh37)

Preferred name:

NM_001385109.1(PHC2):c.1100G>A (p.Arg367Gln)

HGVS:

• NC_000001.11:g.33355130C>T
• NM_001330488.2:c.1013G>A
• NM_001385109.1:c.1100G>AMANE SELECT
• NM_001385112.1:c.1166G>A
• NM_001385119.1:c.1100G>A
• NM_001385120.1:c.1100G>A
• NM_001385121.1:c.1094G>A
• NM_001385122.1:c.1013G>A
• NM_001385123.1:c.374G>A
• NM_198040.3:c.1100G>A
• NP_001317417.1:p.Arg338Gln
• NP_001372038.1:p.Arg367Gln
• NP_001372041.1:p.Arg389Gln
• NP_001372048.1:p.Arg367Gln
• NP_001372049.1:p.Arg367Gln
• NP_001372050.1:p.Arg365Gln
• NP_001372051.1:p.Arg338Gln
• NP_001372052.1:p.Arg125Gln
• NP_932157.1:p.Arg367Gln
• NP_932157.1:p.Arg367Gln
• NC_000001.10:g.33820731C>T
• NM_198040.2:c.1100G>A

This HGVS expression did not pass validation

Protein change:

R125Q

Links:

dbSNP: rs146515869

NCBI 1000 Genomes Browser:

rs146515869

Molecular consequence:

• NM_001330488.2:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385109.1:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385112.1:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385119.1:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385120.1:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385121.1:c.1094G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385122.1:c.1013G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385123.1:c.374G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_198040.3:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]