ClinVar

NM_213653.4(HJV):c.288C>T (p.Thr96=)

Gene:

HJV:hemojuvelin BMP co-receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.1

Genomic location:

• Chr1: 146019544 (on Assembly GRCh38)
• Chr1: 145415469 (on Assembly GRCh37)

Preferred name:

NM_213653.4(HJV):c.288C>T (p.Thr96=)

HGVS:

• NC_000001.11:g.146019544G>A
• NG_011568.1:g.7279C>T
• NM_001316767.2:c.-22+154C>T
• NM_001379352.1:c.288C>T
• NM_145277.5:c.-52C>T
• NM_202004.4:c.-22+154C>T
• NM_213652.4:c.-21-844C>T
• NM_213653.4:c.288C>TMANE SELECT
• NP_001366281.1:p.Thr96=
• NP_998818.1:p.Thr96=
• NC_000001.10:g.145415469C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2101985089

NCBI 1000 Genomes Browser:

rs2101985089

Molecular consequence:

• NM_145277.5:c.-52C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001316767.2:c.-22+154C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_202004.4:c.-22+154C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_213652.4:c.-21-844C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379352.1:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_213653.4:c.288C>T - synonymous variant - [Sequence Ontology: SO:0001819]