ClinVar

NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.1

Genomic location:

• Chr1: 146018408 (on Assembly GRCh38)
• Chr1: 145416605 (on Assembly GRCh37)

Preferred name:

NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)

HGVS:

• NC_000001.11:g.146018408C>T
• NG_011568.1:g.8415G>A
• NM_001316767.2:c.272G>A
• NM_001379352.1:c.950G>A
• NM_145277.5:c.611G>A
• NM_202004.4:c.272G>A
• NM_213652.4:c.272G>A
• NM_213653.4:c.950G>AMANE SELECT
• NP_001303696.1:p.Cys91Tyr
• NP_001366281.1:p.Cys317Tyr
• NP_660320.3:p.Cys204Tyr
• NP_973733.1:p.Cys91Tyr
• NP_998817.1:p.Cys91Tyr
• NP_998818.1:p.Cys317Tyr
• NP_998818.1:p.Cys317Tyr
• NC_000001.10:g.145416605G>A
• NM_213653.3:c.950G>A

This HGVS expression did not pass validation

Protein change:

C204Y

Links:

dbSNP: rs1553769457

NCBI 1000 Genomes Browser:

rs1553769457

Molecular consequence:

• NM_001316767.2:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379352.1:c.950G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_145277.5:c.611G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_202004.4:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_213652.4:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_213653.4:c.950G>A - missense variant - [Sequence Ontology: SO:0001583]