ClinVar

NM_001385109.1(PHC2):c.1311C>T (p.Pro437=)

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: 33354919 (on Assembly GRCh38)
• Chr1: 33820520 (on Assembly GRCh37)

Preferred name:

NM_001385109.1(PHC2):c.1311C>T (p.Pro437=)

HGVS:

• NC_000001.11:g.33354919G>A
• NM_001330488.2:c.1224C>T
• NM_001385109.1:c.1311C>TMANE SELECT
• NM_001385112.1:c.1377C>T
• NM_001385119.1:c.1311C>T
• NM_001385120.1:c.1311C>T
• NM_001385121.1:c.1305C>T
• NM_001385122.1:c.1224C>T
• NM_001385123.1:c.585C>T
• NM_198040.3:c.1311C>T
• NP_001317417.1:p.Pro408=
• NP_001372038.1:p.Pro437=
• NP_001372041.1:p.Pro459=
• NP_001372048.1:p.Pro437=
• NP_001372049.1:p.Pro437=
• NP_001372050.1:p.Pro435=
• NP_001372051.1:p.Pro408=
• NP_001372052.1:p.Pro195=
• NP_932157.1:p.Pro437=
• NP_932157.1:p.Pro437=
• NC_000001.10:g.33820520G>A
• NM_198040.2:c.1311C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs79627057

NCBI 1000 Genomes Browser:

rs79627057

Molecular consequence:

• NM_001330488.2:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385109.1:c.1311C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385112.1:c.1377C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385119.1:c.1311C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385120.1:c.1311C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385121.1:c.1305C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385122.1:c.1224C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385123.1:c.585C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198040.3:c.1311C>T - synonymous variant - [Sequence Ontology: SO:0001819]