ClinVar

NM_001143981.2(CHRDL1):c.1156+1G>T

Gene:

CHRDL1:chordin like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq23

Genomic location:

• ChrX: 110681481 (on Assembly GRCh38)
• ChrX: 109924709 (on Assembly GRCh37)

Preferred name:

NM_001143981.2(CHRDL1):c.1156+1G>T

HGVS:

• NC_000023.11:g.110681481C>A
• NG_012816.1:g.119578G>T
• NM_001143981.2:c.1156+1G>TMANE SELECT
• NM_001143982.2:c.1153+1G>T
• NM_001143983.3:c.916+1G>T
• NM_001367204.1:c.1156+1G>T
• NM_001367205.1:c.1141+1G>T
• NM_001367206.1:c.1141+1G>T
• NM_001367207.1:c.1138+1G>T
• NM_001367208.1:c.1138+1G>T
• NM_001367209.1:c.1125+32G>T
• NM_145234.4:c.1150+1G>T
• NC_000023.10:g.109924709C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs2148409694

NCBI 1000 Genomes Browser:

rs2148409694

Molecular consequence:

• NM_001367209.1:c.1125+32G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001143981.2:c.1156+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001143982.2:c.1153+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001143983.3:c.916+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367204.1:c.1156+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367205.1:c.1141+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367206.1:c.1141+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367207.1:c.1138+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001367208.1:c.1138+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_145234.4:c.1150+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

effect on RNA splicing [Variation Ontology: 0362]

Observations:

1