ClinVar

NM_000044.6(AR):c.1768+2T>C

Gene:

AR:androgen receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

• ChrX: 67643409 (on Assembly GRCh38)
• ChrX: 66863251 (on Assembly GRCh37)

Preferred name:

NM_000044.6(AR):c.1768+2T>C

HGVS:

• NC_000023.11:g.67643409T>C
• NG_009014.2:g.104378T>C
• NM_000044.6:c.1768+2T>CMANE SELECT
• NM_001011645.3:c.172+2T>C
• NM_001348061.1:c.1768+2T>C
• NM_001348063.1:c.1768+2T>C
• NM_001348064.1:c.1617-42532T>C
• LRG_1406t1:c.1768+2T>C
• LRG_1406:g.104378T>C
• NC_000023.10:g.66863251T>C
• NM_000044.3:c.1768+2T>C
• NM_000044.4:c.1768+2T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs1555982894

NCBI 1000 Genomes Browser:

rs1555982894

Molecular consequence:

• NM_001348064.1:c.1617-42532T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000044.6:c.1768+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001011645.3:c.172+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001348061.1:c.1768+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_001348063.1:c.1768+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

1