ClinVar

NM_005522.5(HOXA1):c.546T>C (p.Pro182=)

Gene:

HOXA1:homeobox A1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.2

Genomic location:

• Chr7: 27095367 (on Assembly GRCh38)
• Chr7: 27134986 (on Assembly GRCh37)

Preferred name:

NM_005522.5(HOXA1):c.546T>C (p.Pro182=)

HGVS:

• NC_000007.14:g.27095367A>G
• NG_011813.1:g.5640T>C
• NG_033087.1:g.4274A>G
• NM_005522.5:c.546T>CMANE SELECT
• NM_153620.3:c.355-12T>C
• NP_005513.1:p.Pro182=
• NP_005513.2:p.Pro182=
• NC_000007.13:g.27134986A>G
• NM_005522.4:c.546T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs886062258

NCBI 1000 Genomes Browser:

rs886062258

Molecular consequence:

• NM_153620.3:c.355-12T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_005522.5:c.546T>C - synonymous variant - [Sequence Ontology: SO:0001819]